Familial neuropathies;Neuropathies héréditaires

EMC - Neurologie

Volumn 1, Issue 3, 2004, Pages 254-276

  Plante Bordeneuve V ^a   Said, G ^a  

^a BICÊTRE HOSPITAL   (France)

Author keywords

Charcot Marie Tooth; Genetics; Inherited neuropathies

Indexed keywords

EID: 33645716481     PISSN: 17624231     EISSN: 17624231     Source Type: Journal    
DOI: 10.1016/j.emcn.2004.03.001     Document Type: Short Survey

References (115)

1. Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001;68:753-758.
2. Bahr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene. J Neurol Neurosurg Psychiatry 1999;66:202-206.
3. Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002;30: 21-22.
4. Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations. Clinical and electrophysiological study. Neurology 1998;50:1074-1082.
5. Blanch LC, Meaney C, Morris CP. A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. Hum Mutat 1996;8:38-43.
6. Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat Genet 1999;22:347-351.
7. Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, et al. Periaxin mutations cause recessive Déjerine-Sottas neuropathy. Am J Hum Genet 2001;68:325-333.
8. Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein 2. Nat Genet 2000;25:17-19.
9. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, et al. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet 2000;26: 370-374.
10. Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA 2000;284: 2771-2775.
11. Buchthal LF, Behse F. Peroneal muscular atrophy and related disorders. I: clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 1977;100:41-66.
12. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
13. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, et al. DNA deletion associated with liability to pressure palsies. Cell 1993;72:143-151.
14. Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Méd 1886;6:97-138.
15. Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, et al. The gene encoding ganglioside-induced differentiation- associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 2002;30:22-24.
16. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1 cause hereditary sensory neuropathy type I. Nat Genet 2001;27: 309-312.
17. Dejerine J, Sottas J. Sur la névrite interstitielle hypertrophique et progressive de l'enfance. C R Soc Biol 1893;45: 63-96.
18. Dejong JG. Over families met héréditaire dispositie tot het optreden van neuritiden, gecorreleerd met migraine. Psychiatr Neurol Bl 1947;50:60-76.
19. De Jonghe P, Timmerman V, Fitzpatricks D, Spoelders P, Martin JJ, Van Broeckhoven C. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 1997;62:570-573.
20. De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122:281-290.
21. De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001;49: 245-249.
22. Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, et al. Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet 2000;67:236-243.
23. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2002;70:726-736.
24. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335: 1169-1175.
25. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 1968;18:603-618.
26. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.
27. Dyck PJ. Definition and basis of classification of hereditary neuropathy with neuronal atrophy and degeneration. In: Dyck PJ, Thomas PK, Lambert EH, editors. Peripheral neuropathy. Philadelphia: WB Saunders; 1975. p. 835-867.
28. Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, McDonald JW, Litchy WJ, et al. Not "indifference to pain" but varieties of hereditary sensory and autonomic neuropathy. Brain 1983;106:373-390.
29. Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: WB Saunders; 1993. p. 1065-1094.
30. Dyck PJ, Chance P, Lebo R, et al. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: WB Saunders; 1993. p. 1094-1136.
31. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
32. Fabrizi GM, Cavallaro T, Simonati A, et al. Divergent phenotypes associated with missense mutations of PMP22. J Periph Nerv Dis 1999;4:288-289.
33. Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, et al. Localization of the giant axonal neuropathy gene to chromosome 16q24. Ann Neurol 1998; 43:143-148.
34. Gabreels-Festen AA, Joosten EM, Gabreels FJ, Jennekens FG, Gooskens RH, Stegeman DF. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. Brain 1991;114:1855-1870.
35. Gabreëls-Festen A, Gabreëls F. Hereditary demyelinating motor and sensory neuropathy. Brain Pathol 1993;3: 135-146.
36. Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy. Brain 1990;113:1511-1525.
37. Hahn A, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM. Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis. Acta Neuropathol 2001;101:129-139.
38. Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589-620.
39. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980; 103:259-280.
40. Harding AE, Thomas PK. Peroneal muscular atrophy with pyramidal features. J Neurol Neurosurg Psychiatry 1984; 47:168-172.
41. Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations on myelin related proteins (PMP22, MPZ, Cx32): a clinicopathological study of 205 Japanese patients. Brain 2003; 126:134-151.
42. Hayasaka K, Himoro M, Nanao K, Sato W, Miura M, Uyemura K, et al. Isolation and sequence determination of cDNA encoding PMP22 (PAS-II/SR13/Gas-3) of human peripheral myelin. Biochem Biophys Res Commun 1992; 186:827-831.
43. Hayasaka K, Himoro M, Wang Y, Takata M, Minoshima S, Shimizu N, et al. Structure and chromosomal localization of the gene encoding the human Myelin Protein Zero (MPZ). Genomics 1993;17:755-758.
44. Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, et al. De novo mutation of the myelin Po gene in Déjerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 1993;5:266-268.
45. Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, et al. A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann Neurol 2001;49:521-525.
46. Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhydrosis. Nat Genet 1996;13:485-488.
47. Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, lonasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet 1996;5:1373-1375.
48. Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet 2001;9: 646-650.
49. Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 1997; 17:190-193.
50. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003;126:590-597.
51. Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, et al. Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 1998;121:399-408.
52. Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, et al. N-myc Downstream-regulated gene is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 2000;67:47-58.
53. Kessali M, Zemmouri R, Guilbot A, Maisonobe T, Brice A, LeGuern E, et al. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-tooth disease. Neurology 1997;48:867-873.
54. Kubis N, Durr A, Gugenheim M, Chneiweiss H, Mazzetti P, Brice A, et al. Polyneuropathy in autosomal dominant cerebellar ataxias: phenotype-genotype correlation. Muscle Nerve 1999;22:712-717.
55. Kuhlenbaumer G, Young P, Hunermund G, Ringelstein B, Stogbauer F. Clinical features and molecular genetics of hereditary peripheral neuropathies. J Neurol 2002;249: 1629-1650.
56. Landrieu P, Said G. Peripheral neuropathy in type A Niemann-Pick disease. Acta Neuropathol 1984;63:66-71.
57. Landrieu P, Said G, Allaire C. Dominantly transmitted congenital indifference to pain. Ann Neurol 1990;27: 574-578.
58. Lapresle J, Salisachs P. Onion bulbs in a nerve biopsy specimen from an original case of Roussy-Lévy disease. Arch Neurol 1973;29:346-348.
59. Lenssen PP, Gabreels-Festen AA, Valentijn LJ, Jongen PJ, van Beersum SE, van Engelen BG, et al. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22frame shift mutation. Brain 1998;121:1451-1458.
60. Lewis R, Sumner A, Shy ME. Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis. Muscle Nerve 2000;23: 1472-1487.
61. Li J, Krajewski K, Shy ME, Lewis R. Hereditary neuropathy with liability to pressure palsy. The electrophysiology fits the name. Neurology 2002;58:1769-1773.
62. Low PA, Burke WJ, McLeod JG. Congenital sensory neuropathy with selective loss of small myelinated fibres. Ann Neurol 1978;3:179-182.
63. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, et al. DNA Duplication associated with Charcot-Marie-Tooth Disease Type IA. Cell 1991;66: 219-232.
64. Marrrosu MG, Vaccargiu S, Marrosu G, Vanelli A, Cianchetti C, Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 1998;50:1397-1401.
65. Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, et al. The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/zn-finger protein aprataxin. Nat Genet 2001;29:189-193.
66. Moser HW. Adrenoleucodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997;120:1485-1508.
67. Kershaw NJ, Mukherji M, MacKinnon CH, Claridge TD, Odell B, Wierzbicki AS, et al. Studies on phytanoyl-CoA 2-hydroxylase and synthesis of phytanoyl-coenzyme A. Biorg Med Chem Lett 2001;11:2545-2548.
68. Nardin RA, Johns DR. Mitochondrial dysfunction and neuromuscular disease. Muscle Nerve 2001;24:170-191.
69. Nelis E, Haites N, Van Broeckoven CH. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat 1999;13:11-28.
70. Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, et al. Autosomal recessive cerebellar ataxia with oculo-motor apraxia (ataxia-telangectasia-like syndrome) is linked to chromosome 9q34. Am J Hum Genet 2000;67: 1320-1326.
71. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-692.
72. Nukada H, Pollock M, Haas LF. The clinical spectrum and morphology of type II hereditary sensory neuropathy. Brain 1982;105:647-665.
73. Ouvrier RA, McLeod JG, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy. Brain 1987;110:121-148.
74. Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, et al. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology 1996; 46:1133-1137.
75. Parman Y, Planté-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G. Recessive inheritance of a new point mutation of the PMP22 gene in Déjerine-Sottas disease. Ann Neurol 1999;45:518-522.
76. Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology 1996;46:1128-1132.
77. Planté-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G. The Roussy-Levy family: from the original description to the gene. Ann Neurol 1999;46: 770-773.
78. Planté-Bordeneuve V, Parman Y, Guiochon-Mantel A, Alj Y, Deymeer F, Serdaroglu P, et al. The range of chronic demyelinating neuropathy of infancy: a clinicopathological and genetic study of 15 unrelated cases. J Neurol 2001; 248:795-803.
79. Planté-Bordeneuve V, Said G. Déjerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy. Muscle Nerve 2002;26:608-621.
80. Pollock M, Nukada H, Frith RW, Simcock JP, Allpress S. Peripheral neuropathy in Tangier disease. Brain 1983;106: 911-928.
81. Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics 1995;29: 409-412.
82. Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiological, and genetic aspects of a large family. Neurology 1996;46:1318-1324.
83. Refsum S. Heredopathia atactica polyneuritiformis: a familial syndrome not hinterto described: a contribution to the clinical study of the hereditary diseases of the nervous system. Acta Psychiatr Scand [suppl] 1946;38:1-303.
84. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, et al. Charcot-Marie-Tooth disease type IA association with a spontaneous mutation in the PMP-22 gene. N Engl J Med 1993;329:96-101.
85. Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Déjerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993;5:269-273.
86. Roussy G, Levy G. Sept cas d'une maladie familiale particulière: troubles de la marche, pieds bots et aréflexie tendineuse généralisée, avec, accessoirement, légère maladresse des mains. Rev Neurol 1926;1:427-450.
87. Said G. A clinicopathologic study of acrodystrophic neuropathies. Muscle Nerve 1980;3:491-501.
88. Said G, Bathien N, Cesaro P. Peripheral neuropathies and tremor. Neurology 1982;32:480-485.
89. Said G, Marion MH, Selva J, Jamet C. Hypotrophic and dying-back nerve fibers in Friedreich's ataxia. Neurology 1986;36:1292-1299.
90. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 1995;268: 1749-1753.
91. Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 2003;12:349-356.
92. Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, et al. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 2003;73:1106-1119.
93. Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 2003;60:22-26.
94. Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, et al. The trembler mouse carries a point mutation in a myelin gene. Nature 1992;356:241-244.
95. Swanson AG. Congenital insensivity to pain with anhidrosis. Arch Neurol 1963;8:299-304.
96. Thevenard A. L'acropathie ulcéro-mutilante. Acta Neurol Belg 1953;53:1-23.
97. Thomas PK, Calne DB, Stewart G. Hereditary motor and sensory polyneuropathy (peroneal muscular atrophy). Ann Hum Genet 1974;38:111-153.
98. Thomas PK. Other inherited neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: WB Saunders; 1993. p. 1194-1218.
99. Thomas PK, Marques Jr W, Davis MB, Sweeney MG, King RH, Bradley JL, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997;120:465-478.
100. Thomas PK, Kalaydjieva L, Youl B, Rogers T, Angelicheva D, King RH, et al. Hereditary motor and sensory neuropathyrusse: new autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol 2001;50:452-457.
101. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, et al. Novel missense mutation in the early growth response 2 (EGR2) gene associated with Déjerine-Sottas phenotype. Neurology 1999;52: 1827-1832.
102. Tooth HH. The peroneal type of progressive muscular atrophy. London: Lewis and Co; 1886 [thesis], University of Cambridge.
103. Toyooka K, Said G. Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease. J Neurol 1997; 244:464-468.
104. Thrush DC, Holti G, Bradley WG, Campbell MJ, Walton JN. Neurological manifestations of xeroderma pigmentosum in two siblings. J Neurol Sci 1974;22:91-104.
105. Tyson J, Ellis D, Fairbrother U, King RH, Muntoni F, Jacobs J, et al. Hereditary demyelinating neuropathy of infancy, a genetically complex syndrome. Brain 1997;120: 47-63.
106. Valentijn LJ, Bolhuis PA, Zorn I. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;1:166-170.
107. Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, et al. Mutations in the small GTP-ase late endosomal protein RAB cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003;72: 722-727.
108. Wanders RJ, Jansen GA, Skjeldal OH. Refsum disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol 2001;60:1021-1031.
109. Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Déjerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-460.
110. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384.
111. Wenger DA, Rafi MA, Luzi P. Molecular genetics of Krabbe disease (globoid cell leucodystrophy): diagnostic and clinical implications. Hum Mutat 1997;10:268-279.
112. Windebank JA. Inherited recurrent focal neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: WB Saunders; 1993. p. 1137-1148.
113. Yao JK, Herbert PN. Lipoprotein deficiency and neuromuscular manifestations. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: WB Saunders; 1993. p. 1179-1193.
114. Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996; 46:569-571.
115. Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ. Cell 2001;105:587-597.