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Inherited focal, episodic neuropathies

Hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy

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Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or “sausage-like” formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often triggered by infections, immunizations, the puerperium, and stress. Electrophysiological studies show normal or mildly prolonged motor nerve conduction velocities distal to the affected brachial plexus. Pathological studies have found axonal degeneration in nerves examined distal to the plexus abnormality. In some HNA pedigrees there are characteristic facial features, including hypotelorism. The prognosis for recovery of normal function of affected limbs in HNA is good, although recurrent episodes may cause residual deficits. HNA is genetically linked to chromosome 17q25, where mutations in the septin-9 (SEPT9) gene have been found.

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References

  • Adlkofer K., et al. (1995) Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat. Genet. 11, 274–280.

    PubMed  CAS  Google Scholar 

  • Airaksinen E. M., et al. (1985) Hereditary recurrent brachial plexus neuropathy with dysmorphic features. Acta. Neurol. Scand. 71, 309–316.

    PubMed  CAS  Google Scholar 

  • Alexianu M., et al. (1995) Tomaculous neuropathy with unusual clinical aspects. Rom. J. Neurol. Psychiatry 33, 229–235.

    PubMed  CAS  Google Scholar 

  • Amato A. A. and Barohn R. J. (1996) Hereditary neuropathy with liability to pressure palsies: association with central nervous system demyelination. Muscle Nerve 19, 770–773.

    PubMed  CAS  Google Scholar 

  • Arts W. F. M., et al. (1983) Hereditary neuralgic amyotrophy. J. Neurol. Sci. 62, 261–279.

    PubMed  CAS  Google Scholar 

  • Bardos V. and Somodska V. (1961) Epidemiologic study of a brachial plexus neuritis outbreak in northeast Czechoslovakia. World Neurol. 2, 973–979.

    PubMed  CAS  Google Scholar 

  • Beghi E., et al. (1985) Brachial plexus neuropathy in the population of Rochester, Minnesota, 1970–1981. Ann. Neurol. 18, 320.

    PubMed  CAS  Google Scholar 

  • Behse F., et al. (1972) Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects. Brain 95, 777–794.

    PubMed  CAS  Google Scholar 

  • Bissar-Tadmouri N., et al. (2000) Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. Clin. Genet. 58, 396–402.

    PubMed  CAS  Google Scholar 

  • Bonnel F. (1977) Internal histophysiologic configuration. Rev. Chir. Orthop. 63, 35–38.

    PubMed  CAS  Google Scholar 

  • Bort S., et al. (1997) Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum. Genet. 99, 746–754.

    PubMed  CAS  Google Scholar 

  • Bradley W. G., et al. (1975) Recurrent brachial plexus neuropathy. Brain 98, 381–398.

    PubMed  CAS  Google Scholar 

  • Chance P. F. (1996) Inherited demyelinating neuropathy: Charcot-Marie-Tooth disease and related disorders, in The Molecular and Genetic Basis of Neurological Disease (Rosenberg R. N., Prusiner S. B., DiMauro S., et al., eds.), pp. 807–816, Oxford, Butterworth-Heinemann.

    Google Scholar 

  • Chance P. F., et al. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 15, 143–151.

    Google Scholar 

  • Chance P. F., et al. (1994) Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders. Neurology 44, 2253–2257.

    PubMed  CAS  Google Scholar 

  • Chapon F., et al. (1996) Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A. J. Neurol. Neurosurg. Psychiatry 61, 535–536.

    PubMed  CAS  Google Scholar 

  • Crum B. A., et al. (2000) Fulminant case of hereditary neuropathy with liability to pressure palsy. Muscle Nerve 23, 979–983.

    PubMed  CAS  Google Scholar 

  • Cusimano M. D., et al. (1988) Hypertrophic brachial plexus neuritis: a pathological study of two cases. Ann. Neurol. 24, 615–622.

    PubMed  CAS  Google Scholar 

  • De Jong J. G. Y. (1947) Over families met hereditaire dispositie to the toptreden van neuritiden gecorreleered met migraine. Psychiatr. Neurol. B. (Amst) 50, 60.

    Google Scholar 

  • Drulovic J., et al. (1998) Unusual association of multiple sclerosis and tomaculous neuropathy. J. Neurol. Sci. 157, 217–222.

    PubMed  CAS  Google Scholar 

  • Dubourg O., et al. (2000) Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscul. Disord. 10, 206–208.

    PubMed  CAS  Google Scholar 

  • Dunn H. G., et al. (1978) Heredofamilial brachial plexus neuropathy (hereditary neuralgic amyotrophy with brachial predilection) in childhood. Dev. Med. Child Neurol. 20, 28–46.

    PubMed  CAS  Google Scholar 

  • Dyck P. J., et al. (1993) Hereditary motor and sensory neuropathies, in Peripheral Neuropathy, 3rd ed., (Dyck P. J., Thomas P. K., Griffin J. W., et al., eds.), pp. 1094–1136. WB Saunders, Philadelphia.

    Google Scholar 

  • Dyck P. J., et al. (2001) Biopsied upper limb nerves provide information about distribution and mechanism in immune brachial plexus neuropathy. Neurology 56, A395-A396.

    Google Scholar 

  • Earl C. J., et al. (1964) Hereditary neuropathy with liability to pressure palsies. Q. J. Med. 33, 481–498.

    PubMed  CAS  Google Scholar 

  • Fabbretti E., et al. (1995) Apoptotic phenotype induced by over expression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes. Dev. 9, 1846–1856.

    PubMed  CAS  Google Scholar 

  • Gardner J. H. and Maloney W. (1968) Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. Neurology 18, 278.

    PubMed  CAS  Google Scholar 

  • Geiger L. R., et al. (1974) Familial neuralgic amyotrophy. Brain 97, 87–102.

    PubMed  CAS  Google Scholar 

  • Gerritsen A. A., et al. (2001) Systematic review of randomized clinical trials of surgical treatment for carpal tunnel syndrome. Br. J. Surg. 88, 1285–1295.

    PubMed  CAS  Google Scholar 

  • Gossett J. G. and Chance P. F. (1998) Evaluation and review of the familial carpal tunnel syndrome. Muscle Nerve 21, 1533–1536.

    PubMed  CAS  Google Scholar 

  • Gouider R., et al. (1994) Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities. Neurology. 44, 2250–2252.

    PubMed  CAS  Google Scholar 

  • Hai M., et al. (2001) Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene. J. Neurosci. Res. 65, 508–519.

    PubMed  CAS  Google Scholar 

  • Haites N. E., et al. (1998) 3rd workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28–30 November 1997, Naarden, The Netherlands. Neuromuscul. Disord., 8, 591–603.

    Google Scholar 

  • Harris W. (1939) The Morphology of the Brachial Plexus. Humphrey Milford, London.

    Google Scholar 

  • Hill B. D., et al. (1996) A study of pathology of a bovine primary peripheral neuropathy with features of tomaculous neuropathy. Acta Neuropathol. 91, 545–548.

    PubMed  CAS  Google Scholar 

  • Hsieh J. F. and Chang J. M. (2003) Distinctive imaging evidence of brachial plexus neuritis demonstrated on Ga-67 citrate scintigraphy. Clin. Nucl. Med. 28, 161.

    PubMed  Google Scholar 

  • Jacob J. C., et al. (1961) Heredofamilial neuritis with brachial predilection. Neurology 11, 1025–1033.

    PubMed  CAS  Google Scholar 

  • Kalfakis N., et al. (2002) Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment. Neurology 59, 1470–1471.

    PubMed  CAS  Google Scholar 

  • Kashork C. D., et al. (1999) Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization. Prenat. Diagn. 19, 446–449.

    PubMed  CAS  Google Scholar 

  • Keller M. P., Seifried B. and Chance P. F. (1999) Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific repeat. Mol. Biol. Evol. 16, 1019–1026.

    PubMed  CAS  Google Scholar 

  • Kiyosawa H. and Chance P. F. (1996) Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Hum. Mol. Genet. 5, 745–753.

    PubMed  CAS  Google Scholar 

  • Klein C. J. and Windebank A. J. (2005) Hereditary brachial plexus neuropathy in Peripheral Neuropathy, 4th ed., (Dyck P. J. and Thomas P. K., eds.), Philadelphia, W. B. Saunders.

    Google Scholar 

  • Klein C. J., et al. (2002) Inflammation and neuropathic attacks in hereditary brachial plexus neuropathy. J. Neurol. Neurosurg. Psychiatry 73, 45–50.

    PubMed  CAS  Google Scholar 

  • Kuhlenbäumer G., et al. (2000) Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection. On behalf of the European CMT Consortium. Neuromuscul. Disord. 10, 515–517.

    PubMed  Google Scholar 

  • Kuhlenbäumer G., et al. (2001) Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous. J. Neurol. 248, 861–865.

    PubMed  Google Scholar 

  • Kuhlenbäumer G., et al. (2005) Mutations in the human gene cause hereditary neuralgic amyotrophy (HNA). Nat. Genet. 37(10), 1044–1046.

    PubMed  Google Scholar 

  • Kumar N., et al. (1998) Phenotypic variability in hereditary neuropathy with liability to pressure palsy (HNPP) (abstract). Neurology 50, A73.

    Google Scholar 

  • LeGuern E., et al. (1996) Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12-p11 and for diagnosis. Cytogenet. Cell Genet. 72, 20–25.

    PubMed  CAS  Google Scholar 

  • Lenssen P. P., et al. (1998) Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain 121, 1451–1458.

    PubMed  Google Scholar 

  • Liebelt J. and Parry G. Conservative management of hereditary, neuropathy with liability to pressure palsies. http://www.hnpp.org/index.htm,last updated 3/1/06.

  • Lopes J., et al. (1997) Sex-dependent rearrangements resulting in CMT1A and HNPP. Nat. Genet. 17, 136–137.

    PubMed  CAS  Google Scholar 

  • Lopes J, et al. (1998) Fine mapping of de novoCMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum. Mol. Genet. 7, 141–148.

    PubMed  CAS  Google Scholar 

  • Lupski J. R., et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232.

    PubMed  CAS  Google Scholar 

  • Lupski J. R. and Chance P. F. (2004) Hereditary motor and sensory neuropathies involving altered dosage or mutation of PMP22: The CMT1A duplication and HNPP deletion in Peripheral Neuropathy, 4th ed., (Dyck P. J. and Thomas P. K. eds.), Philadelphia, W.B. Saunders.

    Google Scholar 

  • MacDonald B. K., et al. (2000) The incidence and lifetime prevalence of neurological disorders in a prospective community-based study in the UK. Brain 123, 665–676.

    PubMed  Google Scholar 

  • Madrid R. and Bradley W. G. (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 

  • Magyar J. P., et al. (1996) Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage. J. Neurosci. 16, 5351–5360.

    PubMed  CAS  Google Scholar 

  • Manfioletti G., et al. (1990) A growth arrest-specific (gas) gene codes for a membrane protein. Mol. Cell Biol. 10, 2924–2930.

    PubMed  CAS  Google Scholar 

  • Martinelli P., et al. (1989) Recurrent familial brachial plexus palsies as the only clinical expression of “tomaculous” neuropathy. Eur. Neurol. 29, 61–66.

    PubMed  CAS  Google Scholar 

  • McKusick V. A. Online Mendelian Inheritance in Man, OMIMTM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. World Wide Web URL: (http://www.ncbi.nlm.nih.gov/omim/3/1/06)

    Google Scholar 

  • Meretoja P., et al. (1997) Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul. Disord 8, 529–532.

    Google Scholar 

  • Meuleman J., et al. (1999) Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25. Eur. J. Hum. Genet. 7, 920–927.

    CAS  Google Scholar 

  • Meuleman J., et al. (2001) A novel 39-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. Neuromuscul. Disord. 11, 400–403.

    PubMed  CAS  Google Scholar 

  • Meuleman J., et al. (2001) Hereditary neuralgic amyotrophy. Neurogenetics 3, 115–118.

    PubMed  CAS  Google Scholar 

  • Montagna C., et al. (2003) The Septin 9 (MSF) gene is amplified and overexpressed in mouse mammary gland adenocarcinomas and human breast cancer cell lines. Cancer Res 63, 2179–2187.

    PubMed  CAS  Google Scholar 

  • Mouton P., et al. (1999) Spectrum of clinical and electrophysiological features in HNPP patients with the 17p11.2 deletion. Neurology 52, 1440–1446.

    PubMed  CAS  Google Scholar 

  • Nagata K., et al. (2003) Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules. J. Biol. 278, 8538–8543.

    Google Scholar 

  • Navon R., et al. (1995) Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. Prenat. Diagn. 15, 633–640.

    PubMed  CAS  Google Scholar 

  • Nelis E., et al. (1996) Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet. 4, 25–33.

    PubMed  CAS  Google Scholar 

  • Nicholson G. A., et al. (1994) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat. Genet. 6, 263–266.

    PubMed  CAS  Google Scholar 

  • Ørstavik K., et al. (2001) Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 24, 1093–1096.

    PubMed  Google Scholar 

  • Pareyson D., et al. (1996) Phenotypic heterogeneity in hereditary, neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology 46, 1133–1137.

    PubMed  CAS  Google Scholar 

  • Pareyson D. and Taroni F. (1996) Deletion of the PMP22 gene and hereditary, neuropathy with liability to pressure palsies. Curr. Opin. Neurol. 9, 348–354.

    PubMed  CAS  Google Scholar 

  • Parsonage M. J. and Turner J. W. A. (1948) Neuralgic amyotrophy: shoulder-girdle syndrome. Lancet 1, 973–978.

    PubMed  CAS  Google Scholar 

  • Patel P. I., et al. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1, 157–165.

    Google Scholar 

  • Pellegrino J. E., et al. (1996) Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology 46, 1128–1132.

    PubMed  CAS  Google Scholar 

  • Pellegrino J. E., et al. (1997) Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. Hum. Genet. 101, 277–283.

    PubMed  CAS  Google Scholar 

  • Pentao L., et al. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5Mb monomer unit. Nat. Genet. 2, 292–300.

    PubMed  CAS  Google Scholar 

  • Potocki L. (1999) DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome. Am. J. Hum. Genet. 64, 471–478.

    PubMed  CAS  Google Scholar 

  • Raeymaekers P. et al. (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1A (CMT 1A). Neuromuscul. Disord. 1, 93–97.

    PubMed  CAS  Google Scholar 

  • Raeymaekers P., et al. (1992) Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J. Med. Genet. 29, 5–11.

    PubMed  CAS  Google Scholar 

  • Reiter L. T., et al. (1997) The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum. Mol. Genet. 6, 1595–1603.

    PubMed  CAS  Google Scholar 

  • Reiter L. T., et al. (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am. J. Hum. Genet. 62, 1023–1033.

    PubMed  CAS  Google Scholar 

  • Sahenk Z., et al. (1998) A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. Neurology 51, 702–707.

    PubMed  CAS  Google Scholar 

  • Sander S., et al. (2000) Glinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies. J. Neurol. Neurosurg. Psychiatry 68, 483–488.

    PubMed  CAS  Google Scholar 

  • Schenone A., et al. (1997) Under expression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 48, 445–449.

    PubMed  CAS  Google Scholar 

  • Sessa M., et al. (1997) Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis. J. Med. Genet. 34, 889–892.

    PubMed  CAS  Google Scholar 

  • Shaffer L. G., et al. (1997) Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am. J. Med. Genet. 69, 325–331.

    PubMed  CAS  Google Scholar 

  • Snipes G. J., et al. (1992) Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J. Cell Biol. 117, 225–238.

    PubMed  CAS  Google Scholar 

  • Snipes G. J., et al. (1994) Human peripheral myelin protein-22 carries the L2/HNK-1 carbohydrate adhesion epitope. J. Neurochem. 61, 1961–1964.

    Google Scholar 

  • Spreyer P., et al. (1991) Axon-regulated expression of a Schwann cell transcript that is homologous to a “growth arrest-specific” gene. EMBO J. 10, 3661–3668.

    PubMed  CAS  Google Scholar 

  • Stockton D. W., et al. (2001) Hereditary neuropathy with liability to pressure palsies is not a major cause of idiopathic, carpal tunnel syndrome. Arch. Neurol. 58, 1635–1637.

    PubMed  CAS  Google Scholar 

  • Stogbauer F., et al. (1997) Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. Hum. Genet. 99, 685–687.

    PubMed  CAS  Google Scholar 

  • Suarez G. A., et al. (1996) Immune brachial plexus neuropathy: suggestive evidence for an inflammatory-immune pathogenesis. Neurology 46, 559–561.

    PubMed  CAS  Google Scholar 

  • Surka M. C., et al. (2002) The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis. Mol. Biol. Cell 13, 3532–3545.

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Suter U., et al. (1994) Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J. Biol. Chem. 26, 25,795–25,808.

    Google Scholar 

  • Taggart T. F. and Allen T. R. (2001) Surgical treatment of a tomaculous neuropathy. J. R. Coll. Surg. Edinb. 46, 240–241.

    PubMed  CAS  Google Scholar 

  • Taroni F., et al. (1995) Anonsense mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies (HNPP) not associated with the 17p11.2 deletion. Am. J. Hum. Genet. 57, A229.

    Google Scholar 

  • Taylor R. A. (1960) Hederofamilial mononeuritis multiplex with brachial, predilection. Brain 83, 113–137.

    PubMed  CAS  Google Scholar 

  • Tsairis P., et al. (1972) Natural history of brachial plexus neuropathy. Report on 99 patients. Arch. Neurol. 127, 109–117.

    Google Scholar 

  • Ungley C. C. (1933) Recurrent polyneuritis in pregnancy and the puerperium affecting three members of a family. J. Neurol. Psychopath. 14, 15–26.

    CAS  Google Scholar 

  • Van Alfen N., et al. (2000) The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types?. Brain 123, 718–723.

    PubMed  Google Scholar 

  • van Engelen B. G. M., et al. (1997) Natural history of hereditary neuralgic amyotrophy. Neurology 48, A88.

    Google Scholar 

  • Watts G. D. J., et al. (2001) Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy. Neurology 13, 675–678.

    Google Scholar 

  • Watts G. D. J., et al. (2002) Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families. Hum. Genet. 110, 166–172.

    PubMed  CAS  Google Scholar 

  • Wehnert M., et al. (1997) Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q. Neurology, 48, 1719–1721.

    PubMed  CAS  Google Scholar 

  • Welcher A. A., et al. (1991) A myelin protein is encoded by the homologue of a growth arrest-specific gene. Proc. Natl. Acad. Sci. USA 88, 7195–7199.

    PubMed  CAS  Google Scholar 

  • Wilbourn A. J. (1993) Brachial Plexus Disorders, in Peripheral Neuropathy, 3rd, ed., (Dyck P. J., Thomas P. K., Griffin J. W., Low P. A., and Poduslo J. F., eds.), pp. 911–950. WB Saunders, Philadelphia.

    Google Scholar 

  • Windebank A. J. (1993) Inherited recurrent focal neuropathies, in Peripheral Neuropathy, 3rd ed., (Dyck, P. J., Thomas P. K., Griffin J. W., et al., eds.), pp. 1137–1148. WB Saunders, Philadelphia.

    Google Scholar 

  • Windebank A. J., et al. (1995) Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy—two genetically distinct disorders. Mayo Clin. Proc. 70, 743–746.

    PubMed  CAS  Google Scholar 

  • Wise C. A., et al. (1993) Molecular analyses, of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. Am. J. Hum. Genet. 53, 853–863.

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

  • Young P., et al. (1997) A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology 48, 450–452.

    PubMed  CAS  Google Scholar 

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  1. Division of Genetics and Developmental Medicine, Children's Hospital and Regional Medical Center, Departments of Pediatrics and Neurology, University of Washington School of Medicine, Room RR247, Box 356320, 98195, Seattle, Washington

    Phillip F. Chance

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Chance, P.F. Inherited focal, episodic neuropathies. Neuromol Med 8, 159–173 (2006). https://doi.org/10.1385/NMM:8:1-2:159

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