Abstract
Some polyneuropathies which have not been discussed elsewhere in this monograph deserve specific mention. Some of these are parts of clinical syndromes, while others are specific entities. Although mitochondrial diseases might well be considered to be “genetically determined,” they are also considered here. Peripheral neuropathy resulting from a mitochondrial defect associated with MFN2 and GDAP1 mutations has been addressed as part of the CMT group of peripheral nerve disorders and will not be readdressed here.
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References
Angel MJ, Bril V, Shannon P et al (2007) Neuromuscular function in survivors of the acute respiratory distress syndrome. Can J Neurol Sci 34:427–432
Arnold WD, Elsheikh BH (2013) Entrapment neuropathies. Neurol Clin 31:405–424
Atsumi T, Yakamura Y, Sato T, Ikuta F (1980) Hirano bodies in the axon of peripheral nerves in a case with progressive external ophthalmoplegia with multisystemic involvement. Acta Neuropathol 49:95–100
Averback P, Langevin H (1978) Corpora amylacea of the lumbar spinal cord and peripheral nervous system. Arch Neurol 35:95–96
Bardosi A, Creutzfeldt W, DiMauro S et al (1987) Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) with partial deficiency of cytochrome C oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 74:248–253
Ben Hamida M, Letaief F, Hentati F, Ben Hamida C (1987) Morphometric study of the sensory nerve in classical (or Charcot disease) and juvenile amyotrophic lateral sclerosis. J Neurol Sci 78:313–329
Berkovic SF, Andermann F, Shoubridge EA et al (1991) Mitochondrial dysfunction in multiple symmetrical lipomatosis. Ann Neurol 29:566–569
Bernsen RAJAM, Busard HLSM, Ter Lakk HJ et al (1989) Polyglucosan bodies in intramuscular motor nerves. Acta Neuropathol 77:629–633
Bolton CF, Young GB, Zochodne DW (1993) The neurological complications of sepsis. Ann Neurol 33:94–100
Bradley WG, Good P, Rasool CG, Adelman LS (1983) Morphometric and biochemical studies of peripheral nerves in amyotrophic lateral sclerosis. Ann Neurol 14:267–277
Bruno C, Servidei S, Shanske S et al (1992) Glycogen branching enzyme in adult polyglucosan body disease. Neurology 42(Suppl 3):230 (abstr)
Busard HLSM, Gabreels-Festen AAWM, Van’t Hoff MA et al (1990) Polyglucosan bodies in sural nerve biopsies. Acta Neuropathol 80:554–557
Busard HLSM, Gabreels-Festen AAWM, Renier WO et al (1991) Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. Ann Neurol 29:448–451
Cafferty MS, Lovelace RE, Hays AP et al (1991) Polyglucosan body disease. Muscle Nerve 14:102–107
Carpenter S, Karpati G, Rothman S et al (1978) Pathological involvement of primary sensory neurons in Werdnig-Hoffman disease. Acta Neuropathol 42:91–97
Cavanagh JB (1999) Corpora amylacea and the family of polyglucosan diseases. Brain Res 29:265–295
Chalk CH, Mills KR, Jacobs JM, Donaghy M (1990) Familial multiple symmetric lipomatosis with peripheral neuropathy. Neurology 40:1246–1250
Chusid MJ, Dale DC, West BD, Wolff SM (1975) The hypereosinophilic syndrome. Analysis of 14 cases with review of the literature. Medicine 54:1–27
Dalakas MC (1986) Chronic idiopathic ataxic neuropathy. Ann Neurol 19:545–554
Dayan AD, Graveson GS, Illis S, Robinson PK (1969) Schwann cell damage in motoneuron disease. Neurology 19:242–246
di Trapani G, David P, La Cara A et al (1986) Morphological studies of sural nerve biopsies in the pseudopolyneuropathic form of amyotrophic lateral sclerosis. Clin Neuropathol 5:134–138
Dorfman LJ, Ransom BR, Forno LS, Kelts A (1983) Neuropathy in the hypereosinophilic syndrome. Muscle Nerve 6:291–298
Drachman DA (1968) Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol 18:654–674
Dyck PJ, Stevens JC, Mulder DW, Espinosa RE (1975) Frequency of nerve fiber degeneration of peripheral motor and sensory neurons in amyotrophic lateral sclerosis: morphometry of deep and superficial peroneal nerves. Neurology 25:781–785
Emory TS, Scheithauer BW, Hirose T et al (1995) Intraneural perineurioma. A clonal neoplasm associated with abnormalities of chromosome 22. Am J Clin Pathol 103:696–704
Enzi G (1984) Multiple symmetric lipomatosis: an updated clinical report. Medicine 63:56–64
Enzi G, Angelini C, Negrin P et al (1986) Sensory, motor, and autonomic neuropathy in patients with multiple symmetrical lipomatosis. Medicine 64:388–393
Eymard B, Penicaud A, Leger JM et al (1991) Etude clinique et electrophysiologique du nerf peripherique dans 28 cas de maladie mitochondriale. Rev Neurol 147:508–512
Fadic R, Russell JA, Vedanarayanan VV et al (1997) Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology 49:239–245
Finsterer J (2005) Mitochondrial neuropathy. Clin Neurol Neurosurg 107:181–186
Fletcher SN, Kennedy DD, Ghosh IR et al (2003) Persistent neuromuscular and neurophysiologic abnormalities in long-term survivors of prolonged critical illness. Crit Care Med 31:1012–1016
Frequin ST, Gabreels FJ, Gabreels-Festen AAWM, Joosten EMG (1991) Sensory axonopathy in hereditary distal spinal muscular atrophy. Clin Neurol Neurosurg 93:323–326
Fukuhara N (1977) Intra-axonal corpora amylacea in the peripheral nerve seen in a healthy woman. J Neurol Sci 34:423–426
Garcia Garcia A, Lopez Messa J, Aparicio Duque R (1991) Peripheral polyneuropathy complicating conditions of sepsis and multi organ failure. Electromyogr Clin Neurophysiol 31:181–186
Gemignami F, Juvarra G, Marbini A et al (1982) Polyneuropathy in progressive external ophthalmoplegia. Eur Neurol 21:181–188
Gherardi R, Bouche P, Escourolle R et al (1983) Peroneal muscular atrophy. Part 2. Nerve biopsy studies. J Neurol Sci 61:401–416
Goebel HH, Bardosi A, Friede RL (1986) Sural nerve biopsy studies in Leigh’s subacute necrotizing encephalomyelopathy. Muscle Nerve 9:165–173
Gonatas NK (1967) A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum’s disease and Hurler’s syndrome. Am J Med 42:169–178
Gorson KC, Ropper AH (1993) Acute respiratory failure neuropathy: a variant of critical illness polyneuropathy. Crit Care Med 21:267–271
Gray F, Gherardi R, Marshall A et al (1988) Adult polyglucosan body disease. J Neuropathol Exp Neurol 47:459–474
Griffin JW, Cornblath DR, Alexander E et al (1990) Ataxic sensory neuropathy and dorsal root ganglionitis associated with Sjogren’s syndrome. Ann Neurol 27:304–315
Grisold W, Jellinger K (1985) Multifocal neuropathy with vasculitis in hypereosinophilic syndrome: an entity or drug induced effect. J Neurol 231:301–306
Heads T, Pollock M, Robertson A et al (1991) Sensory nerve pathology in amyotrophic lateral sclerosis. Acta Neuropathol 82:316–320
Hirano M, Silvestri G, Blake DM et al (1994) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44:721–727
Hirano M, Nishigaki Y, Marti R (2004) Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Neurologist 10:8–17
Holme E, Larsson NG, Oldfors A et al (1993) Multiple symmetric lipomas with high levels of mtDNA with the tRNA(lys) A→G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet 52:551–556
Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428–433
Jacobs JM, Harding NN, Lake BD et al (1990) Peripheral neuropathy in Leigh’s disease. Brain 113:447–462
Karpati G, Carpenter S (1983) The clinical spectrum of adult polyglucosan body disease. Neurology 33(Suppl 2):246 (abstr)
Kawamura Y, Dyck PJ, Masatake S et al (1991) Morphometric comparison of the vulnerability of peripheral motor and sensory neurons in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 40:667–675
Kerkoff A, Troost D, Louwerse ES et al (1993) Inflammatory cells in the peripheral nervous system in motor neuron disease. Acta Neuropathol 85:560–565
Klopstock T, Naumann M, Schalke B et al (1994) Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA. Neurology 44:862–866
Koshy K, Zochodne DW (2013) Chapter 44. Neuromuscular complications of critical illness. In: Said G, Krarup C (eds) Handbook of clinical neurology. Peripheral nerve disorders, vol 115 (3rd series). Elsevier BV, Amsterdam, pp 759–780
Li V, Hostein J, Romero N et al (1991) Chronic intestinal pseudo-obstruction with myopathy and ophthalmoplegia: a muscular biochemical study of a mitochondrial disorder. Dig Dis Sci 37:456–463
Lossos A, Barash V, Soffer D et al (1991) Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 30:655–662
Lupo I, Daniele O, Raimondo D et al (1989) Peripheral neuropathy in the hypereosinophilic syndrome: a case report. Eur Neurol 29:269–272
Mancardi GL, Schenone A, Tabaton M et al (1985) Polyglucosan bodies in sural nerve of diabetic patient with polyneuropathy. Acta Neuropathol 66:83–86
Markesbery WR (1979) Lactic acidemia, mitochondrial myopathy, and basal ganglia calcification. Neurology 29:1057–1061
Marshall A, Duchen LW (1975) Sensory system involvement in infantile spinal muscular atrophy. J Neurol Sci 26:349–359
Matsumuro K, Izumo S, Minauchi Y et al (1993) Chronic demyelinating neuropathy and intra-axonal polyglucosan bodies. Acta Neuropathol 86:95–99
McDonald TD, Faust PL, Bruno C et al (1993) Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurology 43:785–790
McLeod JG, Prineas JW (1971) Distal type of chronic spinal muscular atrophy - clinical, electrophysiological and pathological studies. Brain 94:703–714
McMaster KR, Powers JM, Hennigar GR et al (1979) Nervous system involvement in type IV glycogenosis. Arch Pathol Lab Med 103:105–111
Milde P, Guccion JG, Kelly J et al (2001) Adult polyglucosan body disease – diagnosis by sural nerve and skin biopsy. Arch Pathol Lab Med 125:519–522
Mizusawa H, Ohkoshi N, Watanabe M, Kanazawa I (1991) Peripheral neuropathy of mitochondrial myopathies. Rev Neurol 147:501–507
Mochel F, Schiffmann R, Steenweg ME et al (2012) Polyglucosan body disease: natural history and key magnetic resonance imaging findings. Ann Neurol 72:433–441
Monaco S, Lucci B, Laperchia N et al (1988) Polyneuropathy in hypereosinophilic syndrome. Neurology 38:494–496
Mondelli M, Rossi A, Passero S, Guazzi GC (1993) Involvement of peripheral sensory fibers in amyotrophic lateral sclerosis: electrophysiological study of 64 cases. Muscle Nerve 16:166–172
Moore PM, Harley JB, Fauci AS (1985) Neurologic dysfunction in the idiopathic hypereosinophilic syndrome. Ann Intern Med 102:109–114
Nardin RA, Johns DR (2001) Mitochondrial dysfunction and neuromuscular disease. Muscle Nerve 24:170–191
Nicoll JA, Moss TH, Love S et al (1993) Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy. Clin Neuropathol 12:38–43
Ohama E, Ohara S, Ikuta F et al (1987) Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalopathy. Acta Neuropathol 74:226–233
Pamphlett R, Walsh J (1989) Infective endocarditis with inflammatory lesions in the peripheral nervous system. Acta Neuropathol 78:101–104
Pareyson D, Piscosquito G, Moroni I et al (2013) Peripheral neuropathy in mitochondrial disorders. Lancet Neurol 12:1011–1124
Parisi TJ, Mandrekar J, Dyck PJ et al (2011) Meralgia paresthetica: relation to obesity, advanced age, and diabetes mellitus. Neurology 77:1538–1542
Persson AK, Gasser A, Black JA, Waxman SG (2011) Nav1.7 accumulates and co-localizes with phosphorylated ERK1/2 within transected axons in early experimental neuromas. Exp Neurol 230:273–279
Peyronnard JM, Charron L, Bellavance A, Marchand L (1980) Neuropathy and mitochondrial myopathy. Ann Neurol 7:262–268
Pezeshkpour G, Krarup C, Buchtal F et al (1987) Peripheral neuropathy in mitochondrial disease. J Neurol Sci 77:285–304
Pollock M, Nicholson GI, Nukada H et al (1988) Neuropathy in multiple symmetric lipomatosis. Madelung’s disease. Brain 111:1157–1171
Powell HC, Ward HW, Garrett RS et al (1979) Glycogen accumulation in the nerves and kidney of chronically diabetic rats. A quantitative electron microscope study. J Neuropathol Exp Neurol 38:114–127
Probst A, Ulrich J, Bischoff A et al (1981) Sensory ganglioneuropathy in infantile spinal muscular atrophy. Light and electron microscopic findings in two cases. Neuropediatrics 12:215–231
Robitaille Y, Carpenter S, Karpati G, DiMauro S (1980) A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes. Brain 103:315–336
Saiz Hervas E, Martin Llorens M, Alvarez L (2000) Peripheral neuropathy as the first manifestation of Madelung’s disease. Br J Dermatol 143:684–686
Sasaki H, Kuzuhara S, Kanazawa I et al (1983) Myoclonus, cerebellar disorder, neuropathy, mitochondrial myopathy and ACTH deficiency. Neurology 33:1288–1293
Scheithauer BW, Woodruff JM, Spinner RJ (2010) Chapter 12. Peripheral nerve sheath tumors. In: Perry A, Brat DJ (eds) Practical surgical neuropathology. Churchill Livingstone, Philadelphia, pp 235–285
Schmidt RE, Bilbao JM (in press) Chapter 21. Diseases of peripheral nerve. In: Love S, Perry A, Ironside J, Budka H (eds) Greenfield’s neuropathology, 9th edn
Schroder JM (1993) Neuropathy associated with mitochondrial disorders. Brain Pathol 3:177–190
Schroder JM, Sommer C (1991) Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature. Acta Neuropathol 82:471–482
Schroder JM, May R, Shin YS et al (1993) Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neuropathol 85:419–430
Simon LT, Horoupian DS, Dorfman LJ et al (1990) Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome. Ann Neurol 28:349–360
Sobue G, Hashizume Y, Mukai E et al (1989) X-linked recessive bulbospinal neuronopathy. A clinico-pathological study. Brain 112:209–232
Sobue G, Yasuda T, Kachi T et al (1993) Chronic progressive sensory ataxic neuropathy: clinicopathologic features of idiopathic and Sjogren’s syndrome-associated cases. J Neurol 240:1–7
Sommer C, Schroder JM (1989) Hereditary motor and sensory neuropathy with optic atrophy. Arch Neurol 46:972–977
Spitzer AR, Giancarlo T, Maher L et al (1992) Neuromuscular causes of prolonged ventilator dependency. Muscle Nerve 15:682–686
Stam FC, Roukema PA (1973) Histochemical and biochemical aspects of corpora amylacea. Acta Neuropathol 25:95–102
Steiner I, Steinberg A, Argov Z et al (1987) Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction. Neurology 37:1046–1050
Stevens RD, Marshall SA, Cornblath DR et al (2009) A framework for diagnosing and classifying intensive care unit-acquired weakness. Crit Care Med 37:S299–S308
Steyaert A, Cisse S, Merhi Y et al (1990) Purification and polypeptide composition of corpora amylacea from aged human brain. J Neurosci Methods 31:59–64
Sunohara N, Furukawa S, Nishio T et al (1989) Neurotoxicity of human eosinophils towards peripheral nerves. J Neurol Sci 92:1–7
Tannemaat MR, Korecka J, Ehlert EM et al (2007) Human neuroma contains increased levels of semaphorin 3A, which surrounds nerve fibers and reduces neurite extension in vitro. J Neurosci 27:14260–14264
Thomas PK, King RHM, Sharma AK (1980) Changes with age in the peripheral nerves of the rat. An ultrastructural study. Acta Neuropathol 52:1–6
Threkeld AB, Miller NR, Golnik KC et al (1992) Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome. Am J Ophthalmol 114:322–328
Tohgi H, Tsukagoshi H, Toyokura Y (1977) Quantitative changes of sural nerves in various neurological diseases. Acta Neuropathol 38:95–101
Uncini A, Servidei S, Silvestri G et al (1993) Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name. Muscle Nerve 17:667–674
Van Goethem G, Martin JJ, Dermaut B et al (2003) Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13:133–142
Viader A, Sasaki Y, Kim S et al (2013) Schwann cell lipid metabolism linked to mitochondrial deficits leads to axon degeneration and neuropathy. Neuron 77:886–898
Vital A, Vital C (2012) Mitochondria and peripheral neuropathies. J Neuropathol Exp Neurol 71:1036–1046
Vos AJ, Joosten EM, Gabreels-Festen AA (1983) Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. Ann Neurol 13:440–444
Werner RA, Wolf LL (1990) Peripheral neuropathy associated with the hypereosinophilic syndrome. Arch Phys Med Rehabil 71:433–435
Wichman A, Buchtal F, Pezeshkpour GH et al (1985) Peripheral neuropathy in hypereosinophilic syndrome. Neurology 35:1140–1145
Windebank AJ, Blexrud MD, Dyck PJ et al (1990) The syndrome of acute sensory neuropathy: clinical features and electrophysiologic and pathologic changes. Neurology 40:584–591
Winder TR, Auer RN (1989) Sensory neuron degeneration in familial Kugelberg-Welander disease. Can J Neurol Sci 16:67–70
Witt NJ, Zochodne DW, Bolton CF et al (1991) Peripheral nerve function in sepsis and multiple organ failure. Chest 99:176–184
Yiannikas C, McLeod JG, Pollard JD, Baverstock J (1986) Peripheral neuropathy associated with mitochondrial myopathy. Ann Neurol 20:249–257
Yoshikawa H, Dyck PJ, Poduslo PJ, Giannini C (1990) Polyglucosan body axonal enlargement increases myelin spiral length but not lamellar number. J Neurol Sci 98:107–117
Zeviani M, Antozzi C (1992) Defects of mitochondrial DNA. Brain Pathol 2:121–132
Zochodne DW, Bolton CF, Wells GA et al (1987) Critical illness polyneuropathy. A complication of sepsis and multiple organ failure. Brain 110:819–842
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Bilbao, J.M., Schmidt, R.E. (2015). Unclassified Neuropathies and Mimics. In: Biopsy Diagnosis of Peripheral Neuropathy. Springer, Cham. https://doi.org/10.1007/978-3-319-07311-8_21
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