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Biopsy Diagnosis of Peripheral Neuropathy pp 375–428Cite as

Genetically Determined Neuropathies

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Abstract

Peripheral neuropathy caused by a genetic defect is common in clinical practice as the manifestation of a variety of inherited disorders. The polyneuropathy may occur as the sole expression of the genetic defect or may be seen in association with the involvement of the CNS or as part of a complex multisystem disorder. Many of these diseases have a relatively benign and slowly progressive course, with most patients leading a nearly normal life. Recent advances in molecular genetics have reduced the utility of nerve biopsy in the diagnosis of genetically determined neuropathies and allow for the beginnings of a rational classification. The full gamut of genes responsible for inherited neuropathies is now so extensive that it has spawned its own database “The Inherited Peripheral Neuropathies Mutation Database” (http://www.molgen.ua.ac.be/CMTMutations/). We will not attempt to catalogue the pathology of each of these mutations; rather, we will illustrate distinctive neuropathy phenotypes which characterize multiple different genotypes. For additional information the reader is directed to a number of excellent recent reviews. Inherited neuropathies with accumulation of storage material are discussed in Chap. 20. With the exception of clear-cut familial occurrence, often not demonstrable, the single most important clue to the presence of a genetically determined neuropathy is duration of illness. While some neuropathies can manifest episodically or acutely (e.g., porphyria), the vast majority have an insidious onset and progress over many years, except for hereditary neuralgic amyotrophy.

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References

  • Aguayo AJ, Nair CPV, Bray GM (1971) Peripheral nerve abnormalities in the Riley Day syndrome. Findings in a sural nerve biopsy. Arch Neurol 24:106–116

    CAS  PubMed  Google Scholar 

  • Albers JW, Robertson WC, Daube JR (1978) Electrodiagnostic findings in acute porphyric neuropathy. Muscle Nerve 1:292–296

    CAS  PubMed  Google Scholar 

  • Alderson K (1992) Axonal swellings in human intramuscular nerves. Muscle Nerve 15:1284–1289

    CAS  PubMed  Google Scholar 

  • Allen IV, Swallow M, Nevin NC et al (1978) Clinicopathological study of Refsum’s disease with particular reference to fatal complications. J Neurol Neurosurg Psychiatry 41:323–332

    CAS  PubMed Central  PubMed  Google Scholar 

  • Anderson RM, Dennett X, Hopkins IJ et al (1973) Hypertrophic interstitial polyneuropathy in infancy: clinical and pathologic features in two cases. J Pediatr 82:619–624

    CAS  PubMed  Google Scholar 

  • Anzil AP, Dozic S (1978) Peripheral nerve changes in porphyric neuropathy: findings in a sural nerve biopsy. Acta Neuropathol 42:121–126

    CAS  PubMed  Google Scholar 

  • Arts WFM, Busch JFM, Van Der Brand HD et al (1983) Hereditary neuralgic amyotrophy. J Neurol Sci 62:261–279

    CAS  PubMed  Google Scholar 

  • Asbury K, Brown MJ (1980) The evolution of structural changes in distal axonopathies. In: Spencer PS, Schaumburg HH (eds) Experimental and clinical neurotoxicology. Williams & Wilkins, Baltimore, pp 179–192

    Google Scholar 

  • Asbury AK, Cox SC, Baringer JR (1971) The significance of giant vacuolation of endoneurial fibroblasts. Acta Neuropathol 18:123–131

    CAS  PubMed  Google Scholar 

  • Asbury AK, Gale MK, Cox SC et al (1972) Giant axonal neuropathy: a unique case with segmental neurofilamentous masses. Acta Neuropathol 20:237–247

    CAS  PubMed  Google Scholar 

  • Asbury AK, Johnson PC (1978) Pathology of peripheral nerves. Major problems in pathology, vol 9. WB Saunders, Philadelphia

    Google Scholar 

  • Attal C, Robain O, Chapuis G (1975) Familial nerve trunk paralyses. Dev Med Child Neurol 17:787–792

    CAS  PubMed  Google Scholar 

  • Baets J, Deconick T, Vrient ED et al (2011) Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 2011(134):2664–2676

    Google Scholar 

  • Balestrini MR, Cavaletti G, D’Angelo A et al (1991) Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. Neuropediatrics 22:65–70

    CAS  PubMed  Google Scholar 

  • Barbieri F, Filla A, Campanella G et al (1981) A new case of Refsum’s disease. A clinical, biochemical, and ultrastructural study. Acta Neurol 3:475–490

    CAS  Google Scholar 

  • Barbieri F, Santoro L, Crisci C et al (1986) Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich’s ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis-Barr syndrome. Acta Neuropathol 69:213–219

    CAS  PubMed  Google Scholar 

  • Barbieri F, Santangelo R, Crisci C et al (1990) A family with tomaculous neuropathy mimicking Charcot-Marie-Tooth disease. Clin Neurol Neurosurg 92:289–294

    CAS  PubMed  Google Scholar 

  • Barbieri F, Santangelo R, Caparelli G et al (1994) Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding in two siblings. Can J Neurol Sci 21:29–33

    CAS  PubMed  Google Scholar 

  • Bardosi A, Friede RL, Ropte S et al (1987) A morphometric study on sural nerves in metachromatic leukodystrophy. Brain 110:683–694

    PubMed  Google Scholar 

  • Barlow JK, Sims KB, Kolodny EH (1989) Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy. Ann Neurol 25:413–415

    CAS  PubMed  Google Scholar 

  • Barohn RJ, Sanchyez JA, Anderson KE (1994) Acute peripheral neuropathy due to hereditary coproporphyria. Muscle Nerve 17:793–799

    CAS  PubMed  Google Scholar 

  • Begeer JH, Hounthoff HJ, van Weerden TW et al (1979) Infantile neuroaxonal dystrophy and giant axonal neuropathy. Are they related? Ann Neurol 6:540–548

    CAS  PubMed  Google Scholar 

  • Behse F, Buchthal F, Carlsen F et al (1972) Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects. Brain 95:777–795

    CAS  PubMed  Google Scholar 

  • Behse F, Buchthal F, Carlsen F, Knappeis GG (1974) Endoneurial space and its constituents in the sural nerve of patients with neuropathy. Brain 97:773–784

    CAS  PubMed  Google Scholar 

  • Behse F, Buchthal F (1977) Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves. Brain 100:67–85

    PubMed  Google Scholar 

  • Ben Hamida M, Hentati F, Ben Hamida C (1990) Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. Neurology 40:245–250

    CAS  PubMed  Google Scholar 

  • Ben Hamida M, Attia-Romdhane N, Triki CH et al (1991) Analyse clinique et genetique de 188 familles d’heredo-degenerescence spino-cerebelleuse. Maladies de Friedreich et heredo-ataxies de P. Marie. Rev Neurol 147:798–808

    CAS  PubMed  Google Scholar 

  • Benstead TJ, Kuntz NL, Miller RG et al (1990) The electrophysiologic profile of Dejerine-Sottas disease (HSMN-III). Muscle Nerve 13:586–592

    CAS  PubMed  Google Scholar 

  • Berard-Badier M, Gambarelli D, Pinsard N et al (1971) Infantile neuroaxonal dystrophy, or Seitelberger’s disease. II. Peripheral nerve involvement: Electron microscopic study in one case. Acta Neuropathol Suppl 5:30–39

    Google Scholar 

  • Berciano J, Combarros O, Figols J et al (1986) Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. Brain 109:897–914

    PubMed  Google Scholar 

  • Berciano J, Combarros O (1990) Prevalence of Charcot-Marie-Tooth disorders in Cantabria, Spain. In: Lovelace RE, Shapiro HK (eds) Charcot-Marie-Tooth disorders: pathophysiology, molecular genetics, and therapy. Alan R. Liss Inc, New York, pp 65–72

    Google Scholar 

  • Bergoffen J, Trofatter J, Pericak-Vance MA et al (1993a) Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 52:312–318

    CAS  PubMed Central  PubMed  Google Scholar 

  • Bergoffen J, Scherer SS, Wang S et al (1993b) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039–2042

    CAS  PubMed  Google Scholar 

  • Bilbao JM, Berry H, Marotta J et al (1976) Peripheral neuropathy in oxalosis. A case report with electron microscopic observations. Can J Neurol Sci 3:63–67

    CAS  PubMed  Google Scholar 

  • Bird TD, Ott J, Gilblett ER et al (1983) Genetic linkage evidence of heterogeneity in Charcot-Marie-Tooth neuropathy (HSMN type I). Ann Neurol 14:679–684

    CAS  PubMed  Google Scholar 

  • Bird SJ, Sladky JT (1991) Corticosteroid responsive dominantly inherited neuropathy in childhood. Neurology 41:437–439

    CAS  PubMed  Google Scholar 

  • Blume PS, Wolff SM (1972) The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine 51:247–280

    CAS  PubMed  Google Scholar 

  • Bolthauser E, Bischoff A, Isler W (1977) Giant axonal neuropathy. Report of a case with normal hair. J Neurol Sci 31:269–278

    Google Scholar 

  • Bomont P, Cavalier L, Blondeau F et al (2000) The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family is mutated in giant axonal neuropathy. Nat Genet 26:370–374

    CAS  PubMed  Google Scholar 

  • Borenstein S, Noel P, Jacuoy J et al (1977) Myotonic dystrophy with nerve hypertrophy: report of a case with electrophysiological and ultrastructural study of the sural nerve. J Neurol Sci 34:87–99

    CAS  PubMed  Google Scholar 

  • Bouche P, Gherardi R, Cathala HP et al (1983) Peroneal muscular atrophy: part 1. Clinical and electrophysiological study. J Neurol Sci 61:389–399

    CAS  PubMed  Google Scholar 

  • Boylan KB, Ferriero DM, Greco CM et al (1992) Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann Neurol 31:337–340

    CAS  PubMed  Google Scholar 

  • Bradley WG, Madrid R, Davis CJF (1977) The peroneal muscular atrophy syndrome. III. Clinical, electrophysiological and pathological correlations. J Neurol Sci 32:123–136

    CAS  PubMed  Google Scholar 

  • Brust JC, Lovelace RE, Devi S (1978) Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand Suppl 68:1–142

    CAS  PubMed  Google Scholar 

  • Buchthal F, Behse F (1977) Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 100:41–66

    PubMed  Google Scholar 

  • Buzin CH, Gatti RA, Nguyen VQ et al (2003) Comprehensive scanning of the ATM gene with DOVAM-S. Hum Mutat 21:123–131

    CAS  PubMed  Google Scholar 

  • Cammermeyer J (1956) Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis. J Neuropathol Exp Neurol 15:340–361

    CAS  PubMed  Google Scholar 

  • Campbell JAH (1963) The pathology of South African genetic porphyria. S Afr J Lab Clin Med 9:197–203

    Google Scholar 

  • Campistol Plana J, Reverola de Veciana A, Poo Arguelles P (1991) Peripheral neuropathy as a presenting form of Cockayne syndrome. Arch Neurobiol (Madr) 54:141 (abstr)

    CAS  Google Scholar 

  • Caruso G, Santoro L, Perretti A et al (1983) Friedreich’s ataxia: electrophysiological and histological findings. Acta Neurol Scand 67:26–40

    CAS  PubMed  Google Scholar 

  • Castaigne P, Cathala HP, Brunet P et al (1976) Paralysies tronculaires recidivantes et neuropathie chronique concomitante. J Neurol Sci 30:65–82

    CAS  PubMed  Google Scholar 

  • Cavanagh JB, Mellick RS (1965) On the nature of the peripheral nerve lesions associated with acute intermittent porphyria. J Neurol Neurosurg Psychiatry 28:320–327

    CAS  PubMed Central  PubMed  Google Scholar 

  • Cavanagh NP, Eames RA, Galvin RJ et al (1979) Hereditary sensory neuropathy with spastic paraplegia. Brain 102:79–94

    CAS  PubMed  Google Scholar 

  • Ceuterick C, Martin JJ (1990) Skin biopsy is useful for diagnosis of infantile neuroaxonal dystrophy. Ann Neurol 28:109–110

    CAS  PubMed  Google Scholar 

  • Chance FP, Matsunami N, Lensch W et al (1992) Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology 42:2037–2041

    CAS  PubMed  Google Scholar 

  • Chance PF, Alderson MK, Leppig KA et al (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143–151

    CAS  PubMed  Google Scholar 

  • Charnas L, Trapp B, Griffin J (1988) Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology 38:966–974

    CAS  PubMed  Google Scholar 

  • Cleaver JE, Bezrookove V, Revet I et al (2013) Conceptual developments in the causes of Cockayne Syndrome. Mech Ageing Dev 134:284–290

    CAS  PubMed  Google Scholar 

  • Crawford TO, Griffin JW (1991) Morphological and ultrastructural evaluation of the sural nerve in children with Charcot Marie Tooth disease: implications for pathogenesis and treatment. Ann Neurol 30:500 (abstr)

    Google Scholar 

  • Crisci C, Gomez MR, Hoherger GG (1989) Is conjunctival biopsy useful for diagnosis of neuroaxonal dystrophy? Ann Neurol 26:691

    CAS  PubMed  Google Scholar 

  • Cros D, Harnden P, Pouget J et al (1988) Peripheral neuropathy in myotonic dystrophy: a nerve biopsy study. Ann Neurol 23:470–476

    CAS  PubMed  Google Scholar 

  • Cruz-Martinez A, Barrier M, Gutierrez AM et al (1977) Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia. J Neurol Neurosurg Psychiatry 40:44–49

    Google Scholar 

  • DeBruyne J, Dehaene I, Martin JJ (1980) Hereditary pressure sensitive neuropathy. J Neurol Sci 47:385–394

    CAS  PubMed  Google Scholar 

  • de Jong JMBV, Bolhuis PA, Barth PG (1991) Differential diagnosis of the patient with hereditary cerebellar and spinocerebellar disorders. In: de Jong JMBV (ed) Handbook of clinical neurology, vol 60, Hereditary neuropathies and spinocerebellar atrophies. Elsevier Science Publishers, Amsterdam, pp 643–699

    Google Scholar 

  • Denny-Brown D, Sciarra D (1945) Changes in the nervous system in acute porphyria. Brain 68:1–16

    Google Scholar 

  • Dereux J, Gruner JE (1963) La maladie de Refsum. Rev Neurol 109:599–608

    Google Scholar 

  • Di Trapani G, Casali C, Tonali P et al (1984) Peripheral nerve findings in hereditary coproporphyria. Light and ultrastructural studies in two sural nerve biopsies. Acta Neuropathol 63:96–107

    PubMed  Google Scholar 

  • Donaghy M, Hakin RN, Bamford JM et al (1987) Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies. Brain 110:563–583

    PubMed  Google Scholar 

  • Donaghy M, King RHM, Thomas PK et al (1988a) Abnormalities of the axonal cytoskeleton in giant axonal neuropathy. J Neurocytol 17:197–208

    CAS  PubMed  Google Scholar 

  • Donaghy M, Brett EM, Ormederod IEC et al (1988b) Giant axonal neuropathy: observations on a further patient. J Neurol Neurosurg Psychiatry 61:991–994

    Google Scholar 

  • Dotti MT, Rossi A, Rizzuto N et al (1985) Atypical phenotype of Refsum’s disease: clinical, biochemical, neurophysiological and pathological study. Eur Neurol 24:85–93

    CAS  PubMed  Google Scholar 

  • Drac H (1989) On the specificity of focal thickenings of myelin in peripheral nerves. Neuropatol Pol 27:151–168

    CAS  PubMed  Google Scholar 

  • Dubeau F, Michaud J, Lamarre L et al (1985) Giant axonal neuropathy: a complete autopsy study. J Neuropathol Exp Neurol 44:355 (abstr)

    Google Scholar 

  • Duncan C, Strub R, McGarry P et al (1970) Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy. Neurology 20:1024–1032

    CAS  PubMed  Google Scholar 

  • Dunn HG, Daube JR, Gomez MR (1978) Heredofamilial brachial plexus neuropathy (hereditary neuralgic amyotrophy with brachial predilection) in childhood. Dev Med Child Neurol 20:28–46

    CAS  PubMed  Google Scholar 

  • Dyck PJ (1966) Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy, and congenital sensory neuropathy. Mayo Clin Proc 41:742–774

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Gomez MR (1968) Segmental demyelinization in Dejerine-Sottas disease: light, phase-contrast, and electron microscopic studies. Mayo Clin Proc 43:280–296

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Gutrecht JA, Bastron JA et al (1968) Histologic and teased fiber measurements of sural nerve in disorders of lower motor and primary sensory neurons. Mayo Clin Proc 43:81–123

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Ellefson RD, Lais AC et al (1970) Histologic and lipid studies of sural nerves in inherited hypertrophic neuropathy: preliminary report of a lipid abnormality in nerve and liver in Dejerine-Sottas disease. Mayo Clin Proc 45:286–327

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Johnson WJ, Lambert EH, O’Brien PC (1971a) Segmental demyelination secondary to axonal degeneration in uremic neuropathy. Mayo Clin Proc 46:400–431

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Lambert EH, Sanders K et al (1971b) Severe hypomyelination and marked abnormality of conduction in Dejerine-Sottas hypertrophic neuropathy: myelin thickness and compound action potential of sural nerve in vitro. Mayo Clin Proc 46:432–436

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Lais AC (1973) Evidence for segmental demyelination secondary to axonal degeneration in Friedreich’s ataxia. In: Kakulas BK (ed) Clinical studies in myology. Excerpta Medica, Amsterdam, pp 253–263

    Google Scholar 

  • Dyck PJ, Lais AC, Offord KP (1974) The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy. Mayo Clin Proc 49:34–39

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Oviatt KF, Lambert EH (1981a) Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann Neurol 10:222–226

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Lais AC, Karnes JL et al (1981b) Permanent axotomy, a model of axonal atrophy and secondary segmental demyelination and remyelination. Ann Neurol 9:575–583

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Swanson CJ, Low PA et al (1982) Prednisone responsive hereditary motor and sensory neuropathy. Mayo Clin Proc 57:239–246

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Karnes JL, Windebank AJ et al (1983) Minimal pathologic expression of a mutant gene for hereditary motor and sensory neuropathy. Mayo Clin Proc 58:419–425

    CAS  PubMed  Google Scholar 

  • Dyck PJ, Karnes JL, Lambert EH (1989) Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type I. Neurology 39:1302–1308

    CAS  PubMed  Google Scholar 

  • Dyck PJ (1993) Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK (eds) Peripheral neuropathy, 3rd edn. W.B. Saunders, Philadelphia, pp 1065–1093

    Google Scholar 

  • Dyck PJ, Chance P, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. WB Saunders, Philadelphia, pp 1094–1136

    Google Scholar 

  • Eales L, Linder GC (1962) Porphyria - the acute attack. An analysis of 80 cases. S Afr Med J 36:284–292

    CAS  PubMed  Google Scholar 

  • Earl CJ, Fullerton PM, Wakefield GS et al (1964) Hereditary neuropathy with liability to pressure palsies. Q J Med 33:481–498

    CAS  PubMed  Google Scholar 

  • Fardeau M, Engel KW (1969) Ultrastructural study of a peripheral nerve biopsy in Refsum’s disease. J Neuropathol Exp Neurol 28:278–294

    CAS  PubMed  Google Scholar 

  • Fardeau M, Abelanet R, Laudat PH et al (1970) Maladie de Refsum: Etude histologique, ultrastructurale, et biochimique d’une biopsie d’un nerf peripherique. Rev Neurol 122:185–196

    CAS  PubMed  Google Scholar 

  • Federico A, Malandrini A, Scarpini E et al (1989) Biochemical and tissue culture studies of nerve in tomaculous neuropathy. In: Scarpini E, Fiori MG, Pleasure D, Scarlato E (eds) Peripheral nerve development and regeneration: recent advances and clinical applications. Liviana Press, Padova, pp 275–281

    Google Scholar 

  • Felice KJ, Poole RR, Blaivas M, Albers JW (1994) Hereditary neuropathy with liability to pressure palsies masquerading as slowly progressive polyneuropathy. Eur Neurol 34:173–176

    CAS  PubMed  Google Scholar 

  • Flament-Durand DJ, Noel A, Rutsaert J et al (1971) A case of Refsum’s disease: clinical, pathological, ultrastructural and biochemical study. Pathol Eur 6:172–191

    CAS  PubMed  Google Scholar 

  • Fois A, Balestri P, Farnetani MA et al (1985) Giant axonal neuropathy. Endocrinological and histological studies. Eur J Pediatr 144:274–280

    CAS  PubMed  Google Scholar 

  • Friedberg EC (1992) Xeroderma pigmentosum, Cockayne’s syndrome, helicases, and DNA repair: what’s the relationship? Cell 71:887–889

    CAS  PubMed  Google Scholar 

  • Fukuhara N, Kumamoto T, Takesawa H et al (1982) The peripheral neuropathy of De Sanctis-Cacchione syndrome: histological, ultrastructural, and morphometric studies. Acta Neuropathol 56:194–200

    CAS  PubMed  Google Scholar 

  • Gabreels-Festen AAWM, Joosten EMG, Gabreels FJM et al (1990) Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain 113:1629–1643

    PubMed  Google Scholar 

  • Gabreels-Festen AAWM, Joosten EMG, Gabreels FJM et al (1991) Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. Brain 114:1855–1870

    PubMed  Google Scholar 

  • Gabreels-Festen AAWM, Gabreels FJM, Joosten EMG et al (1992a) Hereditary neuropathy with liability to pressure palsies in childhood. Neuropediatrics 23:138–143

    CAS  PubMed  Google Scholar 

  • Gabreels-Festen AAWM, Gabreels FJM, Jennekens FGI et al (1992b) Autosomal recessive form of hereditary motor and sensory neuropathy Type I. Neurology 42:1755–1761

    CAS  PubMed  Google Scholar 

  • Gabreels-Festen A, Gabreels F (1993) Hereditary demyelinating motor and sensory neuropathy. Brain Pathol 3:135–146

    CAS  PubMed  Google Scholar 

  • Gabreels-Festen AAWM, Gabreels FJM, Hoogendijk JE et al (1993) Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria. Acta Neuropathol 86:630–635

    CAS  PubMed  Google Scholar 

  • Gabreels-Festen A, Van Beersum S, Eshuis L et al (1999) Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot–Marie–Tooth disease) with a gene locus on chromosome 5q23–q33. J Neurol Neurosurg Psychiatry 66:569–574

    CAS  PubMed Central  PubMed  Google Scholar 

  • Gabreels-Festen A (2002) Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. J Anat 200:341–356

    PubMed Central  PubMed  Google Scholar 

  • Gambarelli D, Hassoun J, Pellissier JF et al (1977) Giant axonal neuropathy. Involvement of peripheral nerve, myenteric plexus and extra-neuronal area. Acta Neuropathol 39:261–269

    CAS  PubMed  Google Scholar 

  • Gamstorp I (1972) Donohue’s syndrome - leprechaunism - Cockayne’s syndrome. A report of two patients and discussion of the relation between Donohue’s syndrome and Cockayne’s syndrome. Eur Neurol 7:26–33

    CAS  PubMed  Google Scholar 

  • Gardner MB, Goodman WN (1969) Ataxia-Telangiectasia. Electron microscopic study of a nerve biopsy. Bull Los Angeles Neurol Soc 34:23–38

    CAS  PubMed  Google Scholar 

  • Gatti RA (1993) Candidates for the molecular defect in ataxia-telangiectasia. Adv Neurol 61:127–132

    CAS  PubMed  Google Scholar 

  • Gherardi R, Bouche P, Escourolle R et al (1983) Peroneal muscular atrophy. Part 2. Nerve biopsy studies. J Neurol Sci 61:401–416

    CAS  PubMed  Google Scholar 

  • Gibberd FB, Billimoria JD, Goldman JM et al (1985) Heredopathia atactica polyneuritiformis: Refsum’s disease. Acta Neurol Scand 72:1–17

    CAS  PubMed  Google Scholar 

  • Gibson JB, Goldberg A (1956) The neuropathology of acute porphyria. J Pathol Bacteriol 71:495–508

    CAS  PubMed  Google Scholar 

  • Goebel HH, Veit S, Dyck PJ (1980) Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol 39:670–675

    CAS  PubMed  Google Scholar 

  • Gregory A, Westaway SK, Holm IE et al (2008) Neurodegeneration associated with genetic defects in phospholipase A(2). Neurology 71:1402–1409

    CAS  PubMed Central  PubMed  Google Scholar 

  • Gregory R, Thomas PK, King RHM et al (1993) Coexistence of hereditary motor and sensory neuropathy type I and IgM paraproteinemic neuropathy. Ann Neurol 33:649–652

    CAS  PubMed  Google Scholar 

  • Gressner P, Dahlmann W, Spaar FW et al (1972) Muskel und nervenbioptische, immunochemische sowie elektrophysiologische Befunde bei Louis-Barr Syndrome (ataxia-telangiectasia). Z Neurol 202:139–150

    CAS  PubMed  Google Scholar 

  • Grossiord A, Lacert P, Got C et al (1973) Paralysies tronculaires familiales. Une observation avec biopsie d’un nerf peripherique. Lesion histopathologiques d’un type tres particulier. Rev Neurol 128:426–428

    CAS  PubMed  Google Scholar 

  • Grunnet ML, Zimmerman AW, Lewis RA (1983) Ultrastructure and electrodiagnosis of peripheral neuropathy in Cockayne’s syndrome. Neurology 33:1606–1609

    CAS  PubMed  Google Scholar 

  • Guazzi GC, Maandrini A, Gerli R, Federico A (1991) Giant axonal neuropathy in two siblings: a generalized disorder of intermediate filaments. Eur Neurol 31:50–56

    CAS  PubMed  Google Scholar 

  • Guzzetta F, Ferriere G, Lyon G (1982) Congenital hypomyelination polyneuropathy: pathological findings compared with polyneuropathies starting later in life. Brain 105:395–416

    CAS  PubMed  Google Scholar 

  • Hagberg B, Lyon G (1981) Pooled European series of hereditary peripheral neuropathies in infancy and childhood. A “correspondence work shop” report of the European Federal of Child Neurology Societies (EFCNS). Neuropediatrics 12:9–17

    CAS  PubMed  Google Scholar 

  • Hahn AF, Brown WF, Koopman WJ et al (1990) X-linked dominant hereditary motor and sensory neuropathy. Brain 113:1511–1525

    PubMed  Google Scholar 

  • Hahn AF (1993) Hereditary Motor and Sensory Neuropathy: HMSN type II (neuronal type) and X-linked HMSN. Brain Pathol 3:147–155

    CAS  PubMed  Google Scholar 

  • Hakamada S, Humagai T, Hara K et al (1983) Congenital hypomyelination neuropathy in a newborn. Neuropediatrics 14:182–183

    CAS  PubMed  Google Scholar 

  • Hall BM, Walsh JC, Horvath JS et al (1976) Peripheral neuropathy complicating hyperoxaluria. J Neurol Sci 29:343–349

    CAS  PubMed  Google Scholar 

  • Hall SM (1994) Tomaculous neuropathy. J Neurol Neurosurg Psychiatry 57:16

    PubMed Central  Google Scholar 

  • Hannibal MC, Ruzzo EK, Miller LR et al (2009) SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology 72:1755–1759

    CAS  PubMed Central  PubMed  Google Scholar 

  • Harari D, Gibberd FB, Dick JPR et al (1991) Plasma exchange in the treatment of Refsum’s disease (heredopathia atactica polyneuritiformis). J Neurol Neurosurg Psychiatry 54:614–617

    CAS  PubMed Central  PubMed  Google Scholar 

  • Harati Y, Butler IJ (1985) Congenital hypomyelinating neuropathy. J Neurol Neurosurg Psychiatry 48:1269–1276

    CAS  PubMed Central  PubMed  Google Scholar 

  • Harding AE, Thomas PK (1980a) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259–280

    CAS  PubMed  Google Scholar 

  • Harding AE, Thomas PK (1980b) Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 43:669–678

    CAS  PubMed Central  PubMed  Google Scholar 

  • Harding AE, Thomas PK (1980c) Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J Med Genet 17:329–336

    CAS  PubMed Central  PubMed  Google Scholar 

  • Harding AE, Thomas PK (1984) Peroneal muscular atrophy with pyramidal features. J Neurol Neurosurg Psychiatry 47:168–172

    CAS  PubMed Central  PubMed  Google Scholar 

  • Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1–14

    CAS  PubMed  Google Scholar 

  • Harriman DGF, Currie S (1979) Peroneal muscular atrophy studied by motor-point and sensory nerve biopsy. In: Serratrice G, Roux H (eds) Peroneal atrophies and related disorders. Masson, New York, pp 87–106

    Google Scholar 

  • Hayasaka K, Himoro M, Sato W et al (1993a) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 5:31–34

    CAS  PubMed  Google Scholar 

  • Hayasaka K, Ohnishi A, Takada G et al (1993b) Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type I. Biochem Biophys Res Commun 194:1317–1322

    CAS  PubMed  Google Scholar 

  • Hayasaka K, Takada G, Ionasescu VV (1993c) Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet 2:1369–1372

    CAS  PubMed  Google Scholar 

  • Hayasaka K, Himoro M, Sawaishi Y et al (1993d) De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 5:266–268

    CAS  PubMed  Google Scholar 

  • Hentati F, Ben Hamida C, Zeghal M et al (1992) Age dependent axonal loss in nerve biopsy of patients with xeroderma pigmentosum. Neuromuscl Disord 2:361–369

    CAS  Google Scholar 

  • Hentati F, Hentati E, Amouri R (2013) Chapter 52. Giant axonal neuropathy. In: Said G, Krarup C (eds) Handbook of clinical neurology, vol 115 (3rd series), Peripheral nerve disorders. Elsevier BV, Amsterdam, pp 933–938

    Google Scholar 

  • Himoro M, Yoshikawa H, Matsui T et al (1993) New Mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy type 1. Biochem Mol Biol Int 31:169–173

    CAS  PubMed  Google Scholar 

  • Hoogendijk JE, Hensels GW, Gabreels-Festen AAWM et al (1992) De novo mutation in hereditary motor and sensory neuropathy type I. Lancet 339:1081–1082

    CAS  PubMed  Google Scholar 

  • Hoogendijk JE, Janssen EAM, Gabreels-Festen AAWM et al (1993) Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1a). Neurology 43:1010–1015

    CAS  PubMed  Google Scholar 

  • Huang Y, Yang L, Wang J et al (2013) Twelve novel ATM mutations identified in Chinese ataxia telangiectasia patients. Neuromolecular Med 15:536–540

    CAS  PubMed Central  PubMed  Google Scholar 

  • Hughes JT, Brownell B, Hewer RL (1968) The peripheral sensory pathway in Friedreich’s ataxia: an examination by light and electron microscopy of the posterior nerve roots, posterior roots ganglia, and peripheral sensory nerves in cases of Friedreich’s ataxia. Brain 91:803–817

    CAS  PubMed  Google Scholar 

  • Hungerbuhler JP, Meier C, Rousselle J et al (1985) Refsum’s disease: management by diet and plasmapheresis. Eur Neurol 24:153–159

    CAS  PubMed  Google Scholar 

  • Ionasescu VV, Ionasescu R, Searby C (1993) Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve 16:1232–1238

    CAS  PubMed  Google Scholar 

  • Ip CW, Kroner A, Bendszus M et al (2006) Immune cells contribute to myelin degeneration and axonopathic changes in mice overexpressing proteolipid protein in oligodendrocytes. J Neurosci 26:8206–8216

    CAS  PubMed  Google Scholar 

  • Jacobs JM, Gregory R (1991) Uncompacted lamellae as a feature of tomaculous neuropathy. Acta Neuropathol 83:87–91

    CAS  PubMed  Google Scholar 

  • Jerusalem F, Bischoff A (1972) Ataxia-telangiectatica: Elektronen-mikroskopische biopsiebefunde des nervus sural von zwie fallen. Zentralbl Neurol 202:128–138

    CAS  Google Scholar 

  • Joosten E, Gabreels F, Gabreels-Festen A et al (1974) Electron microscopic heterogeneity of onion-bulb neuropathies of the Dejerine-Sottas type: two patients in one family with the variant described by Lyon (1969). Acta Neuropathol 27:105–118

    CAS  PubMed  Google Scholar 

  • Joy JL, Oh SJ (1989) Tomaculous neuropathy presenting as acute recurrent polyneuropathy. Ann Neurol 26:98–100

    CAS  PubMed  Google Scholar 

  • Julien J, Vital C, Lagueny A et al (1988) Hereditary motor and sensory neuropathy type II with axonal lesions. J Neurol 235:254–255

    CAS  PubMed  Google Scholar 

  • Kanda T, Oda M, Yonezawa M et al (1990) Peripheral neuropathy in xeroderma pigmentosum. Brain 113:1025–1044

    PubMed  Google Scholar 

  • Kane JP, Havel RJ (1989) Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In: Scriber CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw Hill, New York, pp 1139–1164

    Google Scholar 

  • Kasman M, Bertstein L, Schulman S (1976) Chronic polyradiculoneuropathy of infancy: a report of three cases with familial incidence. Neurology 26:565–573

    CAS  PubMed  Google Scholar 

  • Kennedy WR, Sung JH, Berry JF (1977) A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies. Arch Neurol 34:337–345

    CAS  PubMed  Google Scholar 

  • Killian JM, Kloepfer HW (1979) Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. Ann Neurol 5:515–522

    CAS  PubMed  Google Scholar 

  • King RH, Sarsilmaz M, Thomas PK et al (1993) Axonal neurofilamentous accumulations: a comparison between human and canine giant axonal neuropathy and 2,5-HD neuropathy. Neuropathol Appl Neurobiol 19:224–232

    CAS  PubMed  Google Scholar 

  • King RH, Tournev I, Colomer J (1999) Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom. Neuropathol Appl Neurobiol 25:306–312

    CAS  PubMed  Google Scholar 

  • Kito S, Yamamoto M, Fujimori N et al (1973) Studies on myotonic dystrophy. In: Kakulas BA (ed) Basic research in myology. Excerpta Medica, Amsterdam, pp 651–673

    Google Scholar 

  • Klein CJ, Duan X, Shy ME (2013) Inherited neuropathies: clinical overview and update. Muscle Nerve 48:604–622

    PubMed Central  PubMed  Google Scholar 

  • Klymkowsky MW, Plummer DJ (1985) Giant axonal neuropathy: a conditional mutation affecting cytoskeletal organization. J Cell Biol 100:245–250

    CAS  PubMed  Google Scholar 

  • Kobsar I, Hasenpusch-Theil K, Wessig C et al (2005) Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A. J Neurosci Res 81:857–864

    CAS  PubMed  Google Scholar 

  • Koch T, Schultz P, Williams R et al (1977) Giant axonal neuropathy: a childhood disorder of neurofilaments. Ann Neurol 1:438–451

    CAS  PubMed  Google Scholar 

  • Koskinen T, Sainio K, Rapola J et al (1994) Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve 17:509–515

    CAS  PubMed  Google Scholar 

  • Kretzschmar HA, Berg BO, Davis RL (1987) Giant axonal neuropathy: a neuropathological study. Acta Neuropathol 73:138–144

    CAS  PubMed  Google Scholar 

  • Kuhlenbaumer G, Young P, Hunermund G et al (2002) Clinical features and molecular genetics of hereditary peripheral neuropathies. J Neurol 249:1629–1650

    CAS  PubMed  Google Scholar 

  • Kulkens T, Boluis P, Wolterman RA et al (1993) Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet 5:35–39

    CAS  PubMed  Google Scholar 

  • Kumar K, Barre P, Nigro M et al (1990) Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic findings in two siblings. J Child Neurol 5:229–234

    CAS  PubMed  Google Scholar 

  • Kuntzer T, Ochsner F, Schmid F et al (1993) Quantitative EMG analysis and longitudinal nerve conduction studies in a Refsum’s disease patient. Muscle Nerve 16:857–863

    CAS  PubMed  Google Scholar 

  • Lamarche JB, Lemieurx B, Lieu HB (1984) The neuropathology of “typical” Friedreich’s ataxia in Quebec. Can J Neurol Sci 11:592–600

    CAS  PubMed  Google Scholar 

  • Landrieu P, Baets J (2013) Early onset (childhood) monogenic neuropathies. In: Said G, Krarup C (eds) Handbook of clinical neurology, vol 115 (third series), Peripheral nerve disorders. Elsevier BV, Amsterdam

    Google Scholar 

  • Lapresle J, Man HX, Metreau R (1974) Documents anatomiques concernant un cas de maladie de Refsum. Rev Neurol 130:103–110

    CAS  PubMed  Google Scholar 

  • Lawson VH, Graham BV, Flanigan KM (2005) Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 65:197–204

    CAS  PubMed  Google Scholar 

  • Leblhuber F, Reisecker F, Willeit J et al (1991) Clinical and electrodiagnostic findings, nerve biopsy, and blood group markers in a family with hereditary neuropathy with liability to pressure palsies. Acta Neurol Scand 83:166–171

    CAS  PubMed  Google Scholar 

  • Lebo RV, Chance PF, Dyck PJ et al (1991) Chromosome 1 Charcot-Marie-Tooth syndrome (HSMN1B) locus in Fc-gamma receptor gene region. Hum Genet 88:1–12

    CAS  PubMed  Google Scholar 

  • Lehmann J, Goebel HH (1992) Intermediare generalisierte form der neuroaxonalen dystrophie - licht- und elektronenmikroskopische befunde. Acta Histochem Suppl 42:311–318

    CAS  PubMed  Google Scholar 

  • Lenz H, Sluga E, Berheimer H et al (1979) Refsum krankheit und ihr verlauf bei diatetischer behandlung durch 2 1 /2 jahre. Nervenarzt 50:52–60

    CAS  PubMed  Google Scholar 

  • Lhermitte F, Gautier JC, Rosa A (1973) Neuropathie recurente familial. Rev Neurol 128:419–424

    CAS  PubMed  Google Scholar 

  • Lin CS-Y, Park SB, Krishnan AV (2013) Chapter 36. Porphyric neuropathy. In: Said G, Krarup C (eds) Handbook of clinical neurology, vol 115 (3rd series), Peripheral nerve disorders. Elsevier BV, Amsterdam, pp 613–627

    Google Scholar 

  • Lockman LA, Kennedy WR, White JG (1967) The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 70:942–951

    CAS  PubMed  Google Scholar 

  • Low PA, McLeod JG, Prineas JW (1978) Hypertrophic Charcot-Marie-Tooth disease: light and electron microscope studies of the sural nerve. J Neurol Sci 35:93–115

    CAS  PubMed  Google Scholar 

  • Lupski JR (1993) In: Appel S (ed) Current neurology. Mosby-Yearbook, Chicago, pp 41–58

    Google Scholar 

  • Lutschg J, Vassella F, Boltshauser E et al (1985) Heterogeneity of congenital motor and sensory neuropathies. Neuropediatrics 16:33–38

    CAS  PubMed  Google Scholar 

  • Lyon G (1969) Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy. Acta Neuropathol 13:131–142

    CAS  PubMed  Google Scholar 

  • Maia M, Pires MM, Guimaraes A (1988) Giant axonal disease: report of three cases and review of the literature. Neuropediatrics 19:10–15

    CAS  PubMed  Google Scholar 

  • Madrid R, Bradley WG (1975) The pathology of neuropathies with focal thickening of the myelin sheath (tomaculous neuropathy): studies on the formation of the abnormal myelin sheath. J Neurol Sci 25:415–448

    Google Scholar 

  • Madrid R, Bradley WG, Davis CJF (1977) The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci 32:91–122

    CAS  PubMed  Google Scholar 

  • Mahammad S, Prasanna Murthy SN, Didonna A (2013) Giant axonal neuropathy–associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest 123:1964–1975

    CAS  PubMed Central  PubMed  Google Scholar 

  • Malandrini A, Guazzi GC, Alessandrini C et al (1990) Peripheral nerve involvement in ataxia telangiectasia: histological and ultrastructural studies of peroneal nerve biopsy in two cases. Clin Neuropathol 9:109–114

    CAS  PubMed  Google Scholar 

  • Malandrini A, Guazzi GC, Federico A (1992) Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy. Clin Neuropathol 11:318–322

    CAS  PubMed  Google Scholar 

  • Mallery DL, Tanganelli B, Colella S et al (1998) Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet 62:77–85

    CAS  PubMed Central  PubMed  Google Scholar 

  • Mancardi GI, Uccelli A, Bellone E et al (1994) 17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1. Eur Neurol 34:135–139

    CAS  PubMed  Google Scholar 

  • Martin JJ, Martin L (1972) Infantile neuroaxonal dystrophy: Ultrastructural study of the peripheral nerves and of the motor end plates. Eur Neurol 8:239–250

    CAS  PubMed  Google Scholar 

  • Martin JJ, Leroy JG, Liebert J et al (1979) Skin and conjunctival biopsies in infantile neuroaxonal dystrophy. Acta Neuropathol 45:247–251

    CAS  PubMed  Google Scholar 

  • Martinelli P, Fabbri R, Moretto G et al (1989) Recurrent familial brachial plexus palsies as the only expression of “ tomaculous” neuropathy. Eur Neurol 20:61–66

    Google Scholar 

  • Matsuoka Y, Sugimura K, Sobue I (1984) Peripheral nerve involvements in spinocerebellar degenerations. In: Sobue I (ed) Peripheral neuropathy. Proceedings of the international symposium on peripheral neuropathy. Excerpta Medica, Amsterdam, pp 138–145

    Google Scholar 

  • Mayer RF, Garcia-Mullin R (1968) Hereditary neuropathy manifested by pressure palsies-a Schwann cell disorder. Trans Am Neurol Assoc 93:238–240

    CAS  PubMed  Google Scholar 

  • McLeod JG (1971) An electrophysiological and pathological study of peripheral nerves in Friedreich’s ataxia. J Neurol Sci 12:333–349

    CAS  PubMed  Google Scholar 

  • McLeod JG, Evans WA (1981) Peripheral neuropathy in spinocerebellar degenerations. Muscle Nerve 4:51–61

    CAS  PubMed  Google Scholar 

  • Meier C, Maibach R, Isler W et al (1976) Dynamic aspects of peripheral nerve changes in progressive neural muscular atrophy. J Neurol 211:111–124

    CAS  PubMed  Google Scholar 

  • Meier C, Bischoff A (1977) Focal mucoid degeneration of peripheral nerve. Light and electron microscopic observation in a sural nerve biopsy of a case of progressive neural muscular atrophy (Charcot-Marie-Tooth). Acta Neuropathol 37:69–72

    CAS  PubMed  Google Scholar 

  • Meier C, Moll C (1982) Hereditary neuropathy with liability to pressure palsies: report of two families and review of the literature. J Neurol 228:73–95

    CAS  PubMed  Google Scholar 

  • Mercelis R, Hassoun A, Verstraeten L et al (1990) Porphyric neuropathy and hereditary delta-aminolevulinic acid dehydratase deficiency in an adult. J Neurol Sci 95:39–47

    CAS  PubMed  Google Scholar 

  • Mihalik SJ, Morrell JC, Kim D et al (1997) Identification of PAHX, a Refsum disease gene. Nat Genet 17:185–189

    CAS  PubMed  Google Scholar 

  • Miller RG, Davis CJF, Illingworth DR et al (1980) The neuropathy of abetalipoproteinemia. Neurology 30:1286–1291

    CAS  PubMed  Google Scholar 

  • Misra VP, King RHM, Harding AE et al (1991) Peripheral neuropathy in the Chediak Higashi syndrome. Acta Neuropathol 81:354–358

    CAS  PubMed  Google Scholar 

  • Mitchell G, Larochelle J, Lambert M et al (1990) Neurologic crises in hereditary tyrosinemia. N Engl J Med 322:432–437

    CAS  PubMed  Google Scholar 

  • Mondelli M, Rossi MA, Malandrini A et al (1993) Axonal motor and sensory neuropathy in myotonic dystrophy. Acta Neurol Scand 88:141–148

    CAS  PubMed  Google Scholar 

  • Moore MR (1993) Biochemistry of porphyria. Int J Biochem 25:1353–1368

    CAS  PubMed  Google Scholar 

  • Moorhead PJ, Cooper DJ, Timperley WR (1975) Progressive peripheral neuropathy in a patient with primary hyperoxaluria. Br Med J 2:312–313

    CAS  PubMed Central  PubMed  Google Scholar 

  • Moosa A, Dubowitz V (1970) Peripheral neuropathy in Cockayne’s syndrome. Arch Dis Child 45:674–677

    CAS  PubMed Central  PubMed  Google Scholar 

  • Moss RB, Sriram S, Kelts A et al (1979) Chronic neuropathy presenting as a floppy infant with respiratory distress. Pediatrics 64:459–464

    CAS  PubMed  Google Scholar 

  • Myers JP, Sung JH, Cowen D et al (1963) Pathological findings in the central and peripheral nervous systems in Chediak Higashi disease. J Neuropathol Exp Neurol 22:357 (abstr)

    Google Scholar 

  • Nance MA, Berry SA (1992) Cockayne Syndrome: review of 140 cases. Am J Med Genet 42:68–84

    CAS  PubMed  Google Scholar 

  • Nelson JS, Fitch CD, Fischer V et al (1981) Progressive neuropathologic lesions in vitamin-E-deficient rhesus monkeys. J Neuropathol Exp Neurol 40:166–186

    CAS  PubMed  Google Scholar 

  • Nevin NC, Cumings JM, McKeown F (1967) Refsum’s syndrome: heredopathia atactica polyneuritiformis. Brain 90:419–428

    CAS  PubMed  Google Scholar 

  • Nicholson GA (1991) Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies. Neurology 41:547–552

    CAS  PubMed  Google Scholar 

  • Nicholson G, Nash J (1993) Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43:2558–2564

    CAS  PubMed  Google Scholar 

  • Nordborg C, Conradi N, Sourander P et al (1984) Hereditary motor and sensory neuropathy of demyelinating and remyelinating type in children: Ultrastructural and morphometric studies on sural nerve biopsy specimens from 10 sporadic cases. Acta Neuropathol 65:1–9

    CAS  PubMed  Google Scholar 

  • Nukada H, Pollock H, Haas LF (1982) The clinical spectrum and morphology of type II hereditary sensory neuropathy. Brain 105:647–665

    PubMed  Google Scholar 

  • Nukada H, Dyck PJ, Karnes JL (1983) Thin axons relative to myelin spiral length in hereditary motor and sensory neuropathy, type I. Ann Neurol 14:648–655

    CAS  PubMed  Google Scholar 

  • Ochoa J (1978) Recognition of unmyelinated fiber disease: morphologic criteria. Muscle Nerve 1:375–387

    CAS  PubMed  Google Scholar 

  • Oda K, Miura H, Shibasaki H et al (1990) Hereditary pressure-sensitive neuropathy: demonstration of “tomaculae” in motor nerve fibers. J Neurol Sci 98:139–148

    CAS  PubMed  Google Scholar 

  • Ohi T, Kyle RA, Dyck PJ (1985) Axonal attenuation and secondary segmental demyelination in myeloma neuropathies. Ann Neurol 17:255–261

    CAS  PubMed  Google Scholar 

  • Ohnishi A, Mitsudome A, Murai Y (1987) Primary segmental demyelination in the sural nerve in Cockayne’s syndrome. Muscle Nerve 10:163–167

    CAS  PubMed  Google Scholar 

  • Ohta M, Ellefson RD, Lambert EH et al (1973) Hereditary sensory neuropathy type II. Clinical, electrophysiologic, histologic and biochemical studies of a Quebec kinship. Arch Neurol 29:23–37

    Google Scholar 

  • Ono J, Senba E, Okada S et al (1982) A case report of congenital hypomyelination. Eur J Pediatr 138:265–270

    CAS  PubMed  Google Scholar 

  • Ouvrier RA, McLeod JG, Morgan GJ et al (1981) Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. J Neurol Sci 51:181–197

    CAS  PubMed  Google Scholar 

  • Ouvrier RA, McLeod JG, Conchin TE (1982) Friedreich’s ataxia. Early detection and progression of peripheral nerve abnormalities. J Neurol Sci 55:137–145

    CAS  PubMed  Google Scholar 

  • Ouvrier RA, McLeod JG, Conchin TE (1987) The hypertrophic forms of hereditary motor and sensory neuropathy: a study of hypertrophic Charcot-Marie-Tooth disease (HSMN type I) and Dejerine-Sottas disease (HSMN type III) in childhood. Brain 110:121–148

    PubMed  Google Scholar 

  • Ouvrier R, McLeod JG, Pollard J (1990) Peripheral neuropathy in childhood, International review of child neurology series. Raven, New York, case 14.3

    Google Scholar 

  • Panayiotopoulos CP, Scarpalezos S (1976) Dystrophia Myotonia: peripheral nerve involvement and pathogenic implications. J Neurol Sci 1–16

    Google Scholar 

  • Parman Y, Battaloglu E, Baris I et al (2004) Clinico-pathological and genetic study of early onset demyelinating neuropathy. Brain 127:2540–2550

    PubMed  Google Scholar 

  • Pareyson D, Piscoquito G, Moroni I (2013) Peripheral neuropathy in mitochondrial disorders. Lancet Neurol 12:1011–1024

    CAS  PubMed  Google Scholar 

  • Peiffer J, Schlote W, Bischoff A et al (1977) Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and Schwann cells in a patient without kinky hair. Acta Neuropathol 40:213–218

    CAS  PubMed  Google Scholar 

  • Pellissier JF, Pouget J, De Victor B et al (1987) Neuropathie tomaculaire: etude histologique et correlations electrocliniques dans 10 cas. Rev Neurol 143:263–278

    CAS  PubMed  Google Scholar 

  • Pena SDJ (1982) Giant axonal neuropathy: an inborn error of organization of intermediate filaments. Muscle Nerve 5:166–172

    CAS  PubMed  Google Scholar 

  • Pessah M, Beucler I, Loux N et al (1993) Genetic exclusion of apo-B gene in recessive abetalipoproteinemia. Biochem Biophys Res Commun 190:97–103

    CAS  PubMed  Google Scholar 

  • Petit H, Leys D, Skjeldal OH et al (1986) La maladie de Refsum. Correlations epidemiologiques, cliniques et biologiques. Six cas. Rev Neurol 142:500–508

    CAS  PubMed  Google Scholar 

  • Pezeshkpour G, Kurent JS, Krarup C et al (1986) Peripheral neuropathy in Chediak-Higashi syndrome. J Neuropathol Exp Neurol 45:353 (abstr)

    Google Scholar 

  • Pich S, Bach D, Briones P et al (2005) The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system. Hum Mol Genet 14:1405–1415

    CAS  PubMed  Google Scholar 

  • Poll-The BT, Gaerner J (2012) Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochim Biophys Acta 1822:1421–1429

    CAS  PubMed  Google Scholar 

  • Pollock M, Dyck PJ (1976) Peripheral nerve morphometry in myotonic dystrophy. Arch Neurol 33:33–39

    CAS  PubMed  Google Scholar 

  • Pou Serradell A, De Paiva VJ, Alameda F et al (1992) Paralysie recidivante familiale du plexus brachial neuropathie tomaculaire. Rev Neurol 148:123–128

    CAS  PubMed  Google Scholar 

  • Prineas JW, Ouvrier RA, Wright RG (1976) Giant Axonal Neuropathy-a generalized disorder of cytoplasmic microfilament formation. J Neuropathol Exp Neurol 35:458–479

    CAS  PubMed  Google Scholar 

  • Rautenstrauss B (2011) Targeting inherited peripheral neuropathies in the postgenomic era. Neurology 77:540–548

    Google Scholar 

  • Reilly RM, Murphy SM, Laura M (2011) Charcot-Marie-Tooth disease. J Peripher Nerv Syst 16:1–14

    PubMed  Google Scholar 

  • Reisecker F, Leblhuber F, Lexner R et al (1994) A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings. Neurology 44:753–755

    CAS  PubMed  Google Scholar 

  • Richen P, Tandan R (1992) Giant axonal neuropathy: progressive clinical and radiologic CNS involvement. Neurology 42:2220–2222

    CAS  PubMed  Google Scholar 

  • Rizzuto N, Monaco S, Moretto G et al (1981) Friedreich’s ataxia. A light and electron microscopic study of peripheral nerve biopsies. Acta Neuropathol Suppl 7:344–347

    CAS  PubMed  Google Scholar 

  • Roa BB, Garcia CA, Suter U et al (1993a) Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP gene. N Engl J Med 329:96–101

    CAS  PubMed  Google Scholar 

  • Roa BB, Garcia CA, Pentao L et al (1993b) Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet 5:189–194

    CAS  PubMed  Google Scholar 

  • Roos D, Thygesen P (1972) Familial recurrent polyneuropathy. A family and a survey. Brain 95:236–248

    Google Scholar 

  • Rossi A, Paradiso C, Cioni R et al (1985) Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. J Neurol 232:91–98

    CAS  PubMed  Google Scholar 

  • Rossi A, Ciacci G, Federico A et al (1986) Sensory and motor peripheral neuropathy in olivopontocerebellar atrophy. Acta Neurol Scand 73:363–371

    CAS  PubMed  Google Scholar 

  • Rossor AM, Polke JM, Houlden H, Reilly MM (2013) Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 9:562–571

    CAS  PubMed  Google Scholar 

  • Routon MC, Robain O, Mayer M et al (1991) Neuropathies hereditaires sensitivomotrices a debut congenital. Rev Neurol 147:577–585

    CAS  PubMed  Google Scholar 

  • Roy S, Srivastava RN, Gupta PC et al (1973) Ultrastructure of peripheral nerve in Cockayne’s syndrome. Acta Neuropathol 24:345–349

    CAS  PubMed  Google Scholar 

  • Rozear MP, Pericak-Vance MA, Fischbeck K et al (1987) Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. Neurology 37:1460–1465

    CAS  PubMed  Google Scholar 

  • Sabatelli M, Mignogna T, Lippi G et al (1994) Autosomal recessive hypermyelinating neuropathy. Acta Neuropathol 87:337–342

    CAS  PubMed  Google Scholar 

  • Sagnelli A, Piscosquito G, Pareyson D (2013) Inherited neuropathies: an update. J Neurol 260:2684–2690

    PubMed  Google Scholar 

  • Sahenk Z, Mendell JR, Lee D et al (1991) Evidence for impaired axonal stimulus in congenital hypomyelinating/amyelinating neuropathies. Neurology 41(Suppl 1):340 (abstr)

    Google Scholar 

  • Said G (1980) A clinicopathologic study of acrodystrophic neuropathies. Muscle Nerve 3:491–501

    CAS  PubMed  Google Scholar 

  • Said G, Boudier L, Zingraff J et al (1983) Different patterns of uremic polyneuropathy: a clinicopathologic study. Neurology 33:567–574

    CAS  PubMed  Google Scholar 

  • Said G, Marion MH, Selva J et al (1986) Hypotrophic and dying back nerve fibers in Friedreich’s ataxia. Neurology 36:1291–1299

    Google Scholar 

  • Said G, Lacroix C, Chemouilli P et al (1991) Cytomegalovirus neuropathy in acquired immunodeficiency syndrome: a clinical and pathological study. Ann Neurol 29:139–146

    CAS  PubMed  Google Scholar 

  • Sander S, Nicholson GA, Ouvrier RA et al (1998) Charcot–Marie–Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and Connexin32 mutations (CMTX1). Muscle Nerve 21:217–225

    CAS  PubMed  Google Scholar 

  • Santoro L, Perretti A, Crisci C et al (1990) Electrophysiological and histological follow-up study in 15 Friedreich’s ataxia patients. Muscle Nerve 13:536–540

    CAS  PubMed  Google Scholar 

  • Santoro L, Perretti A, Filla A et al (1992) Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A Comparison with Friedreich’s ataxia. J Neurol Sci 113:43–49

    CAS  PubMed  Google Scholar 

  • Saporta MA, Shy ME (2013) Inherited peripheral neuropathies. Neurol Clin 31:597–619

    PubMed Central  PubMed  Google Scholar 

  • Sasaki K, Tachi N, Shinoda M et al (1992) Demyelinating peripheral neuropathy in Cockayne syndrome: a histopathologic and morphometric study. Brain Dev 14:114–117

    CAS  PubMed  Google Scholar 

  • Savettieri G, Camarda R, Galatioto S et al (1982) Refsum disease. Clinical and Morphological report on a case. Ital J Neurol Sci 3:241–245

    CAS  PubMed  Google Scholar 

  • Schmucker S, Argentini M, Carelle-Calmels N et al (2008) The in vivo mitochondrial two-step maturation of human frataxin. Hum Mol Genet 17:3521–3531

    CAS  PubMed  Google Scholar 

  • Schochet SS, Chesson AL Jr (1977) Giant axonal neuropathy: possibly secondary to Vitamin B12 malabsorption. Acta Neuropathol 40:79–83

    PubMed  Google Scholar 

  • Schoene WC, Asbury AK, Astrom K-E et al (1970) Hereditary sensory neuropathy. A clinical and ultrastructural study. J Neurol Sci 11:463–487

    CAS  PubMed  Google Scholar 

  • Schott B, Masson R, Quincy C et al (1968) Etude clinique et biologique d’une famille de maladie de Refsum-Thiebaut. Rev Neurol 118:230–236

    CAS  PubMed  Google Scholar 

  • Seitelberger F (1986) Neuroaxonal dystrophy: its relation to aging and neurological diseases. In: Vinken PJ, Bruyn GW, Klawans HL (eds) Handbook of clinical neurology, vol 5, Extrapyramidal disorders. Elsevier, Amsterdam, pp 391–415

    Google Scholar 

  • Seitz RJ, Wechsler W, Mosny DS et al (1986) Hypomyelination neuropathy in a female newborn presenting as arthrogryposis congenita. Neuropediatrics 17:132–136

    CAS  PubMed  Google Scholar 

  • Sengel A, Stoebner P (1972) Interet de la biopsie neuro-musculaire dans le diagnostic de la dystrophie neuro-axonale infantile: Etude ultrastructurale de 3 cas dont 2 familiaux. Acta Neuropathol 21:109–116

    CAS  PubMed  Google Scholar 

  • Serratrice G, Pellissier JF, Desnuelle C et al (1990) Familial spastic paraplegia with peroneal atrophy (9 cases). In: Lovelace RE, Shapiro KH (eds) Charcot Marie Tooth disorders: pathophysiology, molecular genetics, and therapy. Alan R. Liss, New York, pp 59–64

    Google Scholar 

  • Sghirlanzoni A, Pareyson D, Balestrini MR et al (1992) HSMN III phenotype due to homozygous expression of a dominant HMSN II gene. Neurology 42:2201–2204

    CAS  PubMed  Google Scholar 

  • Sharp D, Blinderman L, Combs KA et al (1993) Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia. Nature 365:65–69

    CAS  PubMed  Google Scholar 

  • Shimono M, Ohta M, Asada M et al (1976) Infantile neuroaxonal dystrophy: ultrastructural study of peripheral nerve. Acta Neuropathol 36:71–79

    CAS  PubMed  Google Scholar 

  • Shimono M, Ohta M, Kuroiwa Y (1977) Spastic paraplegia with neurogenic amyotrophy manifesting ballooned axons in sural nerve. Acta Neuropathol 39:9–12

    CAS  PubMed  Google Scholar 

  • Shy ME, Patzko A (2011) Axonal Charcot-Marie-Tooth disease. Curr Opin Neurol 24:475–483

    PubMed  Google Scholar 

  • Skjeldal OH, Stokke O, Refsum S (1993) Phytanic acid storage disease: clinical, genetic, and biochemical aspects. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. W.B. Saunders, Philadelphia, pp 1149–1154

    Google Scholar 

  • Sladky JT, Brown MJ, Berman PH (1986) Chronic inflammatory demyelinating polyneuropathy of infancy: a corticosteroid-responsive disorder. Ann Neurol 20:76–81

    CAS  PubMed  Google Scholar 

  • Smith TW, Bhawah J, Keller RB et al (1980) Charcot-Marie-Tooth disease with hypertrophic neuropathy: a neuropathologic study of two cases. J Neuropathol Exp Neurol 39:420–440

    CAS  PubMed  Google Scholar 

  • Sommer C, Schroder JM (1989) Hereditary motor and sensory neuropathy with optic atrophy. Arch Neurol 46:972–977

    Google Scholar 

  • Spencer PS, Schaumburg HH (1977) Central-peripheral distal axonopathy: the pathology of dying back poly neuropathies. In: Zimmerman H (ed) Progress in neuropathology. Grune & Stratton, New York, pp 253–295

    Google Scholar 

  • Staunton H, Murphy S, Dervan P (1989) The effect of prednisolone in Refsum’s disease. Ir J Med Sci 158:50–51

    CAS  PubMed  Google Scholar 

  • Steinberg D (1989) Refsum disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1533–1550

    Google Scholar 

  • Su U, Brooks DG, Li L et al (1993) Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients. Proc Natl Acad Sci U S A 90:10856–10860

    CAS  PubMed Central  PubMed  Google Scholar 

  • Subramony SH, Currier RD (1991) The classification of familial ataxia. In: de Jong JMBV (ed) Handbook of clinical neurology, vol 60, Hereditary neuropathies and spinocerebellar atrophies. Amsterdam: Elsevier Science Publishers, pp 271–284

    Google Scholar 

  • Suter U, Welcher AA, Ozcelik T et al (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356:241–244

    CAS  PubMed  Google Scholar 

  • Suter U, Welcher AA, Snipes GJ (1993) Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends Neurosci 16:50–56

    CAS  PubMed  Google Scholar 

  • Sweeney VP, Pathak MA, Asbury AK (1970) Acute intermittent porphyria. Increased ALA-synthetase activity during an acute attack. Brain 93:369–380

    CAS  PubMed  Google Scholar 

  • Tachi N, Sasaki K, Kusano T et al (1988) Peripheral neuropathy in four cases of group A Xeroderma pigmentosum. J Child Neurol 3:114–119

    CAS  PubMed  Google Scholar 

  • Tachi N, Kasai K, Chiba S et al (1994) Expression of P0 protein in sural nerve of a patient with hereditary motor and sensory neuropathy type III. J Neurol Sci 124:67–70

    CAS  PubMed  Google Scholar 

  • Takashima H, Boerkoel CF, De Jonghe P et al (2002) Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol 51:709–715

    CAS  PubMed  Google Scholar 

  • Takebe Y, Koide N, Takahashi G (1981) Giant axonal neuropathy: report of two siblings with endocrinological and histological studies. Neuropediatrics 12:392–404

    CAS  PubMed  Google Scholar 

  • Tandan R, Little BW, Emery ES et al (1987) Childhood giant axonal neuropathy: case report and review of the literature. J Neurol Sci 82:205–228

    CAS  PubMed  Google Scholar 

  • Tazir M, Bellatache M, Nouioua S, Vallat J-M (2013) Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J Peripher Nerv Sys 18:113–129

    CAS  Google Scholar 

  • Thomas C, Love S, Powell HC et al (1987) Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. Ann Neurol 22:79–83

    CAS  PubMed  Google Scholar 

  • Thomas PK (1993a) Hereditary sensory neuropathies. Brain Pathol 3:157–163

    CAS  PubMed  Google Scholar 

  • Thomas PK (1993b) Phytanic acid storage disease: pathology of Refsum’s Disease. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. WB Saunders, Philadelphia, pp 1154–1160

    Google Scholar 

  • Thomas FP, Lebo RV, Rosoklija G et al (1994) Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome. Acta Neuropathol 87:91–97

    CAS  PubMed  Google Scholar 

  • Thomas PK, Landon DN, King RHM (1997) Diseases of the peripheral nerves. In: Graham DI, Lantos PL (eds) Greenfield’s neuropathology, 6th edn. Arnold, London, pp 367–487

    Google Scholar 

  • Thorner PS, Bilbao JM, Sima AAF, Briggs S (1981) Porphyric neuropathy: an ultrastructural and quantitative case study. Can J Neurol Sci 8:281–287

    CAS  PubMed  Google Scholar 

  • Thrush DC, Holti G, Bradley WG et al (1974) Neurological manifestations of xeroderma pigmentosum in two siblings. J Neurol Sci 22:91–104

    CAS  PubMed  Google Scholar 

  • Timmerman V, Clowes VE, Reid E (2013) Overlapping molecular pathological themes link CMT neuropathies and hereditary spastic paraplegias. Exp Neurol 246:14–25

    CAS  PubMed  Google Scholar 

  • Tome FMS, Fardeau M, Dudognon P et al (1979) Note on the nerve and muscle lesions of Charcot-Marie-Tooth amyotrophy. In: Serratrice G, Roux H (eds) Peroneal atrophies and related disorders. Masson, New York, pp 107–118

    Google Scholar 

  • Ulrich J, Hirt HR, Kleihues P et al (1981) Connatal polyneuropathy: a case with proliferated microfilaments in Schwann cells. Acta Neuropathol 55:39–46

    CAS  PubMed  Google Scholar 

  • Umehara F, Takenaga S, Nakagawa M et al (1993) Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol 86:602–608

    CAS  PubMed  Google Scholar 

  • Valentijn LJ, Bass F, Wolterman RA et al (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie Tooth disease type Ia. Nat Genet 2:288–291

    CAS  PubMed  Google Scholar 

  • Vallat JM, Gil R, Leboutet MJ et al (1987) Congenital hypo-and hypermyelination neuropathy: two cases. Acta Neuropathol 74:197–201

    CAS  PubMed  Google Scholar 

  • Vallat J-M, Mathis S, Funalot B (2013) The various Charcot–Marie–Tooth diseases. Curr Opin Neurol 26:473–480

    PubMed  Google Scholar 

  • Vanasse M, Dubowitz V (1981) Dominantly inherited peroneal muscular atrophy (hereditary motor and sensory neuropathy type I) in infancy and childhood. Muscle Nerve 4:26–30

    CAS  PubMed  Google Scholar 

  • van Weerden TW, Houthoff HJ, Sie O et al (1982) Variability in nerve biopsy findings in a kinship with dominantly inherited Charcot-Marie-Tooth disease. Muscle Nerve 5:185–196

    PubMed  Google Scholar 

  • Veltema AN, Verjaal A (1961) Sur un cas d’heredopathie taxique polynevritique: maladie de Refsum. Rev Neurol 104:15–23

    CAS  Google Scholar 

  • Verhagen WIM, Gabreels-Festen AAWM, van Wensen PJM et al (1993) Hereditary neuropathy with liability to pressure palsies: a clinical electroneurophysiological and morphological study. J Neurol Sci 116:176–184

    CAS  PubMed  Google Scholar 

  • Verhalle D, Lofgren A, Nelis E et al (1994) Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with pressure palsies. Ann Neurol 35:704–708

    CAS  PubMed  Google Scholar 

  • Vermeulen W, Jaeken J, Jaspers NG et al (1993) Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet 53:185–192

    CAS  PubMed Central  PubMed  Google Scholar 

  • Vital A, Ferrer X, Lagueny A et al (2001) Histopathological features of X-linked Charcot–Marie–Tooth disease in 8 patients from 6 families with different connexin32 mutations. J Peripher Nerv System 6:79–84

    CAS  Google Scholar 

  • Vital C, Julien J, Vallat JM et al (1979) Charcot-Marie-Tooth disease: a histological study in 30 patients. In: Serratrice G, Roux H (eds) Peroneal atrophies and related disorders. Masson, New York, pp 69–85

    Google Scholar 

  • Vital A, Vital C, Riviere JP et al (1987) Variability of morphological features in early infantile polyneuropathy with defective myelination. Acta Neuropathol 73:295–300

    CAS  PubMed  Google Scholar 

  • Vital A, Vital C, Julien J et al (1989) Polyneuropathy associated with IgM monoclonal gammopathy: immunological and pathological study in 31 patients. Acta Neuropathol 79:160–167

    CAS  PubMed  Google Scholar 

  • Vital A, Vital C, Brechenmacher C et al (1990) Chronic inflammatory demyelinating polyneuropathy in childhood: ultrastructural features of peripheral nerve biopsy in four cases. Eur J Pediatr 149:654–658

    CAS  PubMed  Google Scholar 

  • Vital A, Vital C, Julien J et al (1992) Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I. Acta Neuropathol 84:433–436

    CAS  PubMed  Google Scholar 

  • Vogel P, Bariel M, Goebel HH, Dyck PJ (1985) Hereditary motor sensory neuropathy Type II with neurofilament accumulation: new finding or new disorder. Ann Neurol 17:455–461

    CAS  PubMed  Google Scholar 

  • Vos A, Gabreels-Festen A, Joosten E et al (1983) The neuropathy of Cockayne’s syndrome. Acta Neuropathol 61:153–156

    CAS  PubMed  Google Scholar 

  • Wanders RJ, Komen JC (2007) Peroxisomes, Refsum’s disease and the alpha- and omega-oxidation of phytanic acid. Biochem Soc Trans 35:865–869

    CAS  PubMed  Google Scholar 

  • Warner LE, Hilz MJ, Appel SH et al (1996) Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17:451–460

    CAS  PubMed  Google Scholar 

  • Warner LE, Mancias P, Butler IJ et al (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382–384

    CAS  PubMed  Google Scholar 

  • Warner LE, Svaren J, Milbrandt J, Lupski JR (1999) Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 8:1245–1251

    CAS  PubMed  Google Scholar 

  • Wadia N, Irani P, Mehta L et al (1978) Evidence of peripheral neuropathy in a variety of heredo-familial olivo-ponto-cerebellar degeneration frequently seen in India. In: Sobue I (ed) Spinocerebellar degenerations. University Press of Tokyo, Tokyo, pp 239–250

    Google Scholar 

  • Weidenheim KM, Dickson DW, Rapin I (2009) Neuropathology of Cockayne Syndrome: evidence for impaired development, premature ageing, and neurodegeneration. Mech Ageing Dev 130:619–636

    CAS  PubMed  Google Scholar 

  • Weimer LH, Podwall D (2006) Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease. J Neurol Sci 242:47–54

    PubMed  Google Scholar 

  • Weller RO (1967) An electron microscopic study of hypertrophic neuropathy of Dejerine and Sottas. J Neurol Neurosurg Psychiatry 30:111–125

    CAS  PubMed Central  PubMed  Google Scholar 

  • Wichman A, Buchthal F, Pezeshkpour GH et al (1985) Peripheral neuropathy in abetalipoproteinemia. Neurology 35:1279–1289

    CAS  PubMed  Google Scholar 

  • Windebank AJ (1993) Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. WB Saunders, Philadelphia, pp 1137–1148

    Google Scholar 

  • Windebank AJ, Bonkovsky HL (1993) Porphyric neuropathy. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. WB Saunders, Philadelphia, pp 1161–1168

    Google Scholar 

  • Wisniewski K, Wisniewski HM (1980) Diagnosis of infantile neuroaxonal dystrophy by skin biopsy. Ann Neurol 7:377–379

    CAS  PubMed  Google Scholar 

  • Wood RD (1991) Human diseases associated with defective DNA excision repair. J R Coll Physicians Lond 25:300–303

    CAS  PubMed  Google Scholar 

  • Woods CG, Taylor AM (1992) Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 82:169–179

    CAS  PubMed  Google Scholar 

  • Yagishita S, Itoh Y, Nakano T et al (1978) Infantile neuroaxonal dystrophy. Schwann cell inclusion in the peripheral nerve. Acta Neuropathol 41:257–259

    CAS  PubMed  Google Scholar 

  • Yao JK, Dyck PJ (1987) Tissue distribution of phytanic acid and its analogues in a kinship with Refsum’s disease. Lipids 22:69–75

    CAS  PubMed  Google Scholar 

  • Yao JK, Herbert PN (1993) Lipoprotein deficiency and neuromuscular manifestations. In: Dyck PJ, Thomas PK et al (eds) Peripheral neuropathy, 3rd edn. WB Saunders, Philadelphia, pp 1179–1193

    Google Scholar 

  • Yasuda H, Shigeta Y, Dyck PJ (1990) Axon caliber and neurofilament content and three dimensional alterations of axon in hereditary motor and sensory neuropathy type II. In: Lovelace RE, Shapiro KH (eds) Charcot-Marie-Tooth disorders: pathophysiology, molecular genetics, and therapy. Allan R. Liss, New York, pp 87–92

    Google Scholar 

  • Yiu EM, Ryan MM (2012) Demyelinating prenatal and infantile developmental neuropathies. J Peripher Nerv Syst 17:32–52

    CAS  PubMed  Google Scholar 

  • Yoshikawa H, Dyck PJ (1991) Uncompacted inner myelin lamellae in inherited tendency to pressure palsy. J Neuropathol Exp Neurol 50:649–657

    CAS  PubMed  Google Scholar 

  • Yoshikawa H, Nishimura T, Nakatsuji Y et al (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth type 1A. Ann Neurol 35:445–450

    CAS  PubMed  Google Scholar 

  • Young P, Suter U (2003) The causes of Charcot–Marie–Tooth disease. Cell Mol Life Sci 60:2547–2560

    CAS  PubMed  Google Scholar 

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  1. Sunnybrook and St Michael’s Hospitals, University of Toronto, Toronto, ON, Canada

    Juan M. Bilbao MD, FRCP (C) (Professor Emeritus of Neuropathology)

  2. Division of Neuropathology Department of Pathology, Washington University School of Medicine, St. Louis, MO, USA

    Robert E. Schmidt MD, PhD (Professor of Pathology and Immunology Director)

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Bilbao, J.M., Schmidt, R.E. (2015). Genetically Determined Neuropathies. In: Biopsy Diagnosis of Peripheral Neuropathy. Springer, Cham. https://doi.org/10.1007/978-3-319-07311-8_19

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