Clinical features and molecular genetics of hereditary peripheral neuropathies

Journal of Neurology

Volumn 249, Issue 12, 2002, Pages 1629-1650

  Kuhlenbäumer, Gregor ^a   Young, Peter ^a   Hünermund, Gert ^a   Ringelstein, Bernd ^a   Stögbauer, Florian ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Classification; Genetics; Hereditary neuropathy; Pathomechanism

Indexed keywords

IMMUNOGLOBULIN MU BINDING PROTEIN; MYELIN PROTEIN; PHOSPHOTRANSFERASE; PROTEIN; PROTEIN GDAP1; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DISEASE CLASSIFICATION; ELECTROPHYSIOLOGY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PARAMETERS; GENETICS; HUMAN; HYPOMYELINATION; MOLECULAR GENETICS; MUSCLE ATROPHY; PERIPHERAL NEUROPATHY; POINT MUTATION; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW; SENSORY NEUROPATHY;

ANIMALS; GENETIC DISEASES, INBORN; HUMANS; MOLECULAR BIOLOGY; MUTATION; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 0037005365     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-002-0946-3     Document Type: Review

References (217)

1. Abel A, Bone LJ, Messing A, Scherer SS, Fischbeck KH (1999) Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease. J Neuropathol Exp Neurol 58:702-710
2. Adlkofer K, Frei R, Neuberg DH, Zielasek J, Toyka KV, Suter U (1997) Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy. J Neurosci 17:4662-4671
3. Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U (1995) Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet 11:274-280
4. Airaksinen EM, Iivanainen M, Karli P, Sainio K, Haltia M (1985) Hereditary recurrent brachial plexus neuropathy with dysmorphic features. Acta Neurol Scand 71:309-316
5. Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY (2001) Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 68:753-758
6. Andersson PB, Yuen E, Parko K, So YT (2000) Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 54:40-44
7. Angelicheva D, Turnev I, Dye D, Chandler D, Thomas PK, Kalaydjieva L (1999) Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter. Eur J Hum Genet 7:560-566
8. Anzini P, Neuberg DH, Schachner M, Nelles E, Willecke K, Zielasek J, Toyka KV, Suter U, Martini R (1997) Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci 17:4545-4551
9. Arts WF, Busch HF, Van den Brand HJ, Jennekens FG, Frants RR, Stefanko SZ (1983) Hereditary neuralgic amyotrophy. Clinical, genetic, electrophysiological and histopathological studies. J Neurol Sci 62:261-279
10. Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V (2000) Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology 55:1552-1557
11. Auer-Grumbach M, Strasser-Fuchs S, Wagner K, Korner E, Fazekas F (1998) Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2. J Neurol Sci 154:72-75
12. Auer-Grumbach M, Wagner K, Fazekas F, Loscher WN, Strasser-Fuchs S, Hartung HP (1999) Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation. Nervenarzt 70:1052-1061
13. Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P, Hartung HP (2000) Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIb and hereditary sensory neuropathy I loci. Neurology 54:45-52
14. Baethmann M, Gohlich-Ratmann G, Schroder JM, Kalaydjieva L, Voit T (1998) HMSNL in a 13-year-old Bulgarian girl. Neuromuscul Disord 8:90-94
15. Bahr M, Andres F, Timmerman V, Nelis ME, Van Broeckhoven C, Dichgans J (1999) 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 66:202-206
16. Balice-Gordon RJ, Bone LJ, Scherer SS (1998) Functional gap junctions in the Schwann cell myelin sheath. J Cell Biol 142:1095-1104
17. Barhoumi C, Amouri R, Ben Hamida C, Ben Hamida M, Machghoul S, Gueddiche M, Hentati F (2001) Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscul Disord 11:27-34
18. Baxter R, Ben Othman K, Rochelle J, Stajich J, Stenger J, Pericak-Vance MA, Vance JM (2001) Novel mutations in the GDAP1 gene are responsible for Charcot-Marie-Tooth disease type 4A. Abstract American Society of Human Genetics: Abstract Nr. 2614
19. Baxter RV, Ben Othmane K, Rochelle IM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM (2001) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 17:17
20. Behse F, Buchthal F, Carlsen F, Knappeis GG (1972) Hereditary neuropathy with liability to pressure palsies. Electrophysiological and histopathological aspects. Brain 95:777-794
21. Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. (2001) SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 27:261-262
22. Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M'Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F (1997) Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics 1:129-133
23. Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses A, Pericak-Vance M, Ben Hamida M, Vance J (1993) Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Gen 2:1625-1628
24. Ben Othmane K, Middleton L, Loprest L, Wilkinson K, Lennon F, Rozear M, Stajich J, Gaskell P, Roses A, Pericak-Vance M, et al. (1993) Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17:370-375
25. Ben Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM (1999) Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics 62:344-349
26. Berg BO, Rosenberg SH, Asbury AK (1972) Giant axonal neuropathy. Pediatrics 49:894-899
27. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993) Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042
28. Bird T, Ott J, Giblett E (1982) Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet 34:388-394
29. Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Leger JM, Agid Y, Brice A, Bouche P (1998) X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50:1074-1082
30. Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO (1993) Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet 4:160-164
31. Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR (2001) Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 68:325-333
32. Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M (1996) Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet 5:1051-1054
33. Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP (2000) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet 25:17-19
34. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M (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
35. Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS (1997) Connexin32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 4:221-230
36. Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E (1999) A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet 65:722-727
37. Brown AM, Lemke G (1997) Multiple regulatory elements control transcription of the peripheral myelin protein zero gene. J Biol Chem 272:28939-28947
38. Bruzzone R, White TW, Paul DL (1996) Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 238:1-27
39. Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL (1994) Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 13:1253-1260
40. Chance P, Alderson M, Leppig K, Lensch M, Matsunami N, Smith B, Swanson P, Odelberg S, Disteche C, Bird T (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151
41. Chance PF, Matsunami N, Lensch W, Smith B, Bird TD (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
42. Chapon F, Diraison P, Lechevalier B, Chazot G, Viader F, Bonnebouche C, Vandenberghe A, Timmerman V, Van Broeckhoven C (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
43. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A (1999) Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 66:779-782
44. Charcot J-M, Marie P (1886) Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. RevMéd (Paris) 6:97-138
45. Christodoulou K, Kyriakides T, Hristova AH, Georgiou DM, Kalaydjieva L, Yshpekova B, Ivanova T, Weber JL, Middleton LT (1995) Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet 4:1629-1632
46. Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L (2000) A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.Ann Neurol 48:877-884
47. Cowchock FS, Duckett SW, Streletz LJ, Graziani LJ, Jackson LG (1985) X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Am J Med Genet 20:307-315
48. Cox GA, Mahaffey CL, Frankel WN (1998) Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron 21:1327-1337
49. Cuesta A, Pedrola L, Sevilla T, Garcia-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marin I, Vilchez JJ, Palau F (2001) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 17:17
50. Cui X, De Vivo I, Slany R, Miyamoto A, Firestein R, Cleary ML (1998) Association of SET domain and myotubularin-related proteins modulates growth control. Nat Genet 18:331-337
51. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA (2001) Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 27:309-312
52. De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001) Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 49:245-249
53. De Jonghe P, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, Lofgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C (1999) The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122:281-290
54. De Jonghe P, Timmerman V, Fitz-Patrick D, Spoelders P, Martin JJ, Van Broeckhoven C (1997) Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry 62:570-573
55. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N (2002) 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 70:726-736
56. Déjerine J, Sottas J (1893) Sur la névrite interstitielle, hypertrophique et progressive de l'enfance. CRSocBiol (Paris) 45:63-96
57. Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M (2000) Mapping of a new locus for autosomal recessive demyelihating 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 67:236-243
58. D'Urso D, Brophy PJ, Staugaitis SM, Gillespie CS, Frey AB, Stempak JG, Colman DR (1990) Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 4:449-460
59. D'Urso D, Ehrhardt P, Muller HW (1999) Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. J Neurosci 19:3396-3403
60. 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
61. rd edn. WB Saunders, Philadelphia, pp 1094-1136
62. rd edn. WB Saunders, Philadelphia, pp 1065-1093
63. Dyck PJ, Lambert EH (1968) Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies. ArchNeurol 18:603-618
64. Ekici AB, Fuchs C, Nelis E, Hillenbrand R, Schachner M, Van Broeckhoven C, Rautenstrauss B (1998) An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins. Genet Anal 14:117-119
65. Evans BA, Stevens JC, Dyck PJ (1981) Lumbosacral plexus neuropathy. Neurology 31:1327-1330
66. Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N (1999) Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. Neurology 53:846-851
67. Filbin MT, Walsh FS, Trapp BD, Pizzey JA, Tennekoon GI (1990) Role of myelin P0 protein as a homophilic adhesion molecule. Nature 344:871-872
68. Fischbeck KH, ar-Rushdi N, Pericak-Vance M, Rozear M, Roses AD, Fryns JP (1986) X-linked neuropathy: gene localization with DNA probes. Ann Neurol 20:527-532
69. Gabreels-Festen AA, Hoogendijk JE, Meijerink PH, Gabreels FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC (1996) Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 47:761-765
70. Gabriel JM, Erne B, Pareyson D, Sghirlanzoni A, Taroni F, Steck AJ (1997) Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies. Neurology 49:1635-1640
71. Gal A, Mucke J, Theile H, Wieacker PF, Ropers HH, Wienker TF (1985) X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70:38-42
72. Genschel J, Schmidt HH (2000) Mutations in the LMNA gene encoding lamin A/C. Hum Mutat 16:451-459
73. Giese KP, Martini R, Lemke G, Soriano P, Schachner M (1992) Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71:565-576
74. Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ (2000) Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 26:523-531
75. Greco A, Villa R, Fusetti L, Orlandi R, Pierotti MA (2000) The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. J Cell Physiol 182:127-133
76. Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schoneborn S, Zerres K, Hubner C (2001) Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29:75-77
77. Grohmann K, Wienker TF, Saar K, Rudnik-Schoneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nurnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hubner C (1999) Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form is linked to chromosome 11q13-q21. Am J Hum Genet 65:1459-1462
78. Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M (2001) A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 10:415-421
79. Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA (2000) Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease. Muscle Nerve 23:182-188
80. Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM (2001) Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis. Acta Neuropathol (Berl) 101:129-139
81. Hanemann CO, Stoll G, D'Urso D, Fricke W, Martin JJ, Van Broeckhoven C, Mancardi GL, Bartke I, Muller HW (1994) Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J Neurosci Res 37:654-659
82. Harding AE (1993) Inherited neuronal atrophy and degeneration predominantly of lower motor neurons. In: Dyck PJ, Thomas PK (eds) Peripheral Neuropathy. Vol. 2, 3 edn. W.B. Saunders, Philadelphia, pp 1051-1063
83. Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259-280
84. Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF (1993) Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet 5:31-34
85. Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N (1993) De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 5:266-268
86. Hayasaka K, Ohnishi A, Takada G, Fukushima Y, Murai Y (1993) Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. Biochem Biophys Res Commun 194:1317-1322
87. Herget T, Esdar C, Oehrlein SA, Heinrich M, Schutze S, Maelicke A, van Echten-Deckert G (2000) Production of ceramides causes apoptosis during early neural differentiation in vitro. J Biol Chem 275:30344-30354
88. Herrmann H, Aebi U (2000) Intermediate filaments and their associates: multi-talented structural elements specifying cytoarchitecture and cytodynamics. Curr Opin Cell Biol 12:79-90
89. Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK (2001) A novel TRKA (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann Neurol 49:521-525
90. Huxley C, Passage E, Manson A, Putzu G, Figarella-Branger D, Pellissier JF, Fontes M (1996) Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet 5:563-569
91. Huxley C, Passage E, Robertson AM, Youl B, Huston S, Manson A, Sabéran DD, Figarella BD, Pellissier JF, Thomas PK, Fontés M (1998) Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hum Mol Genet 7:449-458
92. Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K (1996) A novel homozygous mutation of the myelin Po gene producing Déjerine-Sottas disease (hereditary motor and sensory neuropathy type III). Biochem Biophys Res Commun 222:107-110
93. Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I (1996) Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 13:485-488
94. Ionasescu V, Searby C, Sheffield V, Roklina T, Nishimura D, Ionasescu R (1996) Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet 5:1373-1375
95. Ionasescu VV, Kimura J, Searby CC, Smith WL, Jr, Ross MA, Ionasescu R (1996) A Déjerine-Sottas neuropathy family with a gene mapped on chromosome 8. Muscle Nerve 19:319-323
96. Ionasescu VV, Searby CC, Ionasescu R, Chatkupt S, Patel N, Koenigsberger R (1997) Déjerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle Nerve 20:97-99
97. Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am J Hum Genet 48:1075-1083
98. Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP, Latham ID, Chase JM, Fisher EM, Bouzyk MM, Potter A, Masih M, Walsh FS, Sims MA, Doncaster KE, Parsons CA, Martin J, Brown SD, Rastan S, Spurr NK, Gray IC (2000) Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy. Hum Mol Genet 9:1865-1871
99. Ismailov SM, Fedotov VP, Dadali EL, Polyakov AV, Van Broeckhoven C, Ivanov VI, De Jonghe P, Timmerman V, Evgrafov OV (2001) A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet 9:646-650
100. Jacob J, Andermann F, Robb J (1961) Heredofamilial neuritis with brachial predilection. Neurology 11:1025-1033
101. Joseph LJ, Le Beau MM, Jamieson GA, Jr, Acharya S, Shows TB, Rowley JD, Sukhatme VP (1988) Molecular cloning, sequencing, and mapping of EGR2, a human early growth response gene encoding a protein with zinc-binding finger structure. Proc Natl Acad Sci U S A 85:7164-7168
102. Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK (2000) N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 67:47-58
103. Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK (1996) Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet 14:214-217
104. Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK (1998) Hereditary motor and sensory neuropathy-Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 121:399-408
105. Kamholz J, Menichella D, Jani A, Garbern J, Lewis RA, Krajewski KM, Lilien J, Scherer SS, Shy ME (2000) Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain 123:222-233
106. Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, Robertson SP, Nicholson GA (2001) Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. Am J Hum Genet 69:883-888
107. Krappmann D, Hatada EN, Tegethoff S, Li J, Klippel A, Giese K, Baeuerle PA, Scheidereit C (2000) The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component. J Biol Chem 275:29779-29787
108. Kuhlenbäumer G, Meuleman J, De Jonghe P, Falck B, Young P, Hünermund G, Broeckhoven CV, Timmerman V, Stögbauer F (2001) Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous. J Neurol 248:861-865
109. Kuhlenbaumer G, Schirmacher A, Meuleman J, Tissir F, Del-Favero J, Stogbauer F, Young P, Ringelstein B, Van Broeckhoven C, Timmerman V (1999) A Sequence-Ready BAC/PAC Contig and Partial Transcript Map of Approximately 1.5 Mb in Human Chromosome 17q25 Comprising Multiple Disease Genes. Genomics 62:242-250
110. Kwon JM, Elliott JL, Yee WC, Ivanovich J, Scavarda NJ, Moolsintong PJ, Goodfellow PJ (1995) Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 57:853-858
111. Lambert EH, Bastron JA, Mulder DW (1958) Conduction velocity of motor fibers of peripheral nerves in peroneal muscular atrophy (Charcot-Marie-Tooth disease). Read at the annual meeting of the American Academy of Neurology, Philadelphia, April 1958
112. Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (1996) A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 13:175-182
113. Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernandez E, Mendez M, Hennies HC, Neundorfer B, Barrantes R, Reis A, Rautenstrauss B (2001) A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am J Hum Genet 68:269-274
114. LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A (1997) Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 41:104-108
115. LeGuern E, Guilbot A, Kessali M, Ravise N, Tassin J, Maisonobe T, Grid D, Brice A (1996) Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet 5:1685-1688
116. Lemke G (1988) Unwrapping the genes of myelin. Neuron 1:535-543
117. Lemke G, Lamar E, Patterson J (1988) Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1:73-83
118. Liu H, Nakagawa T, Kanematsu T, Uchida T, Tsuji S (1999) Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene. J Neurochem 72:1781-1790
119. Lupski J, de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B, Saucedo-Cardenas O, Barker D, Killian J, Garcia C (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232
120. Lupski J, Wise C, Kuwano A, Pentao L, Parke J, Glaze D, Ledbetter D, Greenberg F, Patel P (1992) Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nat Genet 1:29-33
121. Mancardi GL, Mandich P, Nassani S, Schenone A, James R, Defferrari R, Bellone E, Giunchedi M, Ajmar F, Abbruzzese M (1995) Progressive sensory-motor polyneuropathy with tomaculous changes is associated to 17p11.2 deletion. J Neurol Sci 131:30-34
122. Manfioletti G, Ruaro ME, Del Sal G, Philipson L, Schneider C (1990) A growth arrest-specific (gas) gene codes for a membrane protein. Mol Cell Biol 10:2924-2930
123. Mardy S, Miura Y, Endo F, Matsuda I, Indo Y (2001) Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum Mol Genet 10:179-188
124. Mariman EC, Gabreels-Festen AA, van Beersum SE, Jongen PJ, Ropers HH, Gabreels FJ (1993) Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1. Hum Genet 92:87-90
125. Marques W, Jr, Sweeney JG, Wood NW, Wroe SJ, Marques W (1999) Central nervous system involvement in a novel connexin 32 mutation affecting identical twins. J Neurol Neurosurg Psychiatry 66:803-804
126. Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F (1998) Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 50:1397-1401
127. Martini R, Zielasek J, Toyka K, Giese P, Schachner M (1995) Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet 11:281-286
128. Matsunami N, Smith B, Ballard L, Lensch M, Robertson M, Albertsen H, Hanemann C, Muller H, Bird T, White R, et al. (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet 1:176-179
129. McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N (2001) Localization of the gene for distal hereditary motor neuronopathy VII (dHMN VII) to chromosome 2q14. Am J Hum Genet 68:1270-1276
130. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000) A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 67:37-46
131. Meuleman J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen A, Pou Serradell A, Prats J, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V (1999) Genetic refinement of the Hereditary Neuralgic Amyotrophy (HNA) locus at chromosome 17q25. Eur J Hum Genet 7:920-927
132. Muglia M, Zappia M, Timmerman VV, Valentino P, Gabriele AL, Conforti FL, De Jonghe P, Ragno M, Mazzei R, Sabatelli M, Nicoletti G, Patitucci AM, Oliveri RL, Bono F, Gambardella A, Quattrone A (2001) Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy. Neurology 56:100-103
133. Muller HW (2000) Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: new facts and hypotheses. Glia 29:182-185
134. Naef R, Adlkofer K, Lescher B, Suter U (1997) Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies. Mol Cell Neurosci 9:13-25
135. Nelis E, Haites N, Van Broeckhoven C (1999) Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat 13:11-28
136. Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C, Rautenstrauss B (1999) Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field. Neurogenetics 2:137-148
137. Nelis E, Van Broeckhoven C, De JP, Lofgren A, Vandenberghe A, Latour P, Le GE, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg SH, Estivill X, Volpini V, Friedl W, Gal A (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
138. Nelles E, Butzler C, Jung D, Temme A, Gabriel HD, Dahl U, Traub O, Stumpel F, Jungermann K, Zielasek J, Toyka KV, Dermietzel R, Willecke K (1996) Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. Proc Natl Acad Sci U S A 93:9565-9570
139. Nicholson G, Corbett A (1996) Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. J Neurol Neurosurg Psychiatry 61:43-46
140. Nicholson G, Valentijn L, Cherryson A, Kennerson M, Bragg T, DeKroon R, Ross D, Pollard J, McLeod J, Bolhuis P (1994) A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 6:263-266
141. Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T (1996) The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet 13:101-104
142. Nicholson GA, Yeung L, Corbett A (1998) Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations. Neurology 51:1412-1416
143. Nicholson SM, Ressot C, Gomes D, D'Andrea P, Perea J, Duval N, Bruzzone R (1999) Connexin32 in the peripheral nervous system. Functional analysis of mutations associated with X-linked Charcot-Marie-Tooth syndrome and implications for the pathophysiology of the disease. Ann N Y Acad Sci 883:168-185
144. Oh S, Ri Y, Bennett MV, Trexler EB, Verselis VK, Bargiello TA (1997) Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron 19:927-938
145. Orstavik K, Skard Heier M, Young P, Stogbauer F (2001) Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 24:1093-1096
146. Ouvrier RA (1989) Giant axonal neuropathy. A review. Brain Dev 11:207-214
147. Pahl HL, Baeuerle PA (1997) The ER-overload response: activation of NF-kappa B. Trends Biochem Sci 22:63-67
148. Palau F, Cuesta A, Pedrola L, Sevilla J, Garcia-Planells J, LeGuern E, Vilchez J (2001) Mutations in the ganglioside-induced differentiation-associated protein 1(GDAP1) gene cause axonal Charcot-Marie-Tooth disease. Abstract American Society of Human Genetics: Abstract Nr. 105
149. Palau F, Lofgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin J, Vilchez J, Prieto F, Van Broeckhoven C (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 2:2031-2035
150. Pareek S, Suter U, Snipes GJ, Welcher AA, Shooter EM, Murphy RA (1993) Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J Biol Chem 268:10372-10379
151. Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A (2000) Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 54:1696-1698
152. Parman Y, Plante-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G (1999) Recessive inheritance of a new point mutation of the PMP22 gene in Déjerine-Sottas disease. Ann Neurol 45:518-522
153. Paul DL (1986) Molecular cloning of cDNA for rat liver gap junction protein. J Cell Biol 103:123-134
154. Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF (1996) Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology 46:1128-1132
155. Pentao L, Wise C, Chinault A, Patel P, Lupski J (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292-300
156. Perea J, Robertson A, Tolmachova T, Muddle J, King RH, Ponsford S, Thomas PK, Huxley C (2001) Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 10:1007-1018
157. Pericak-Vance MA, Speer MC, Lennon F, West SG, Menold MM, Stajich JM, Wolpert CM, Slotterbeck BD, Saito M, Tim RW, Rozear MP, Middleton LT, Tsuji S, Vance JM (1997) Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1:89-93
158. Phillips JP, Warner LE, Lupski JR, Garg BP (1999) Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol 20:226-232
159. Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, Lapresle J, Said G (1999) The Roussy-Levy family: from the original description to the gene. Ann Neurol 46:770-773
160. Priest JM, Fischbeck KH, Nouri N, Keats BJ (1995) A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics 29:409-412
161. Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia M (1996) Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology 46:1318-1324
162. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1:93-97
163. Ressot C, Gomes D, Dautigny A, Pham DD, Bruzzone R (1998) Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. J Neurosci 18:4063-4075
164. Riley CM, Day RL, Greely D, Langford WS (1949) Central autonomic dysfuncion with defective lacrimation. Pediatrics 3:468-477
165. Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993) Déjerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5:269-273
166. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI (1993) Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 329:96-101
167. Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L (2000) A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet 67:664-671
168. Rossi A, Paradiso C, Cioni R, Rizzuto N, Guazzi G (1985) Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. J Neurol 232:91-98
169. Roussy G, Levy G (1934) A propos de la dystasia areflexique hereditaire. Rev Neurol 2:763-773
170. Saito M, Hayashi Y, Suzuki T, Tanaka H, Hozumi I, Tsuji S (1997) Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology 49:1630-1635
171. Sambuughin N, Sivakumar K, Selenge B, Lee HS, Friedlich D, Baasanjav D, Dalakas MC, Goldfarb LG (1998) Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 161:23-28
172. Schenone A, Nobbio L, Mandich P, Bellone E, Abbruzzese M, Aymar F, Mancardi GL, Windebank AJ (1997) Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 48:445-449
173. Scherer SS, Bone LJ, Deschenes SM, Abel A, Balice-Gordon RJ, Fischbeck KH (1999) The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease. Novartis Found Symp 219:175-185
174. Schneider-Maunoury S, Topilko P, Seitandou T, Levi G, Cohen-Tannoudji M, Pournin S, Babinet C, Charnay P (1993) Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain. Cell 75:1199-1214
175. Sereda M, Griffiths I, Puhlhofer A, Stewart H, Rossner MJ, Zimmerman F, Magyar JP, Schneider A, Hund E, Meinck HM, Suter U, Nave KA (1996) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16:1049-1060
176. Shapiro L, Doyle JP, Hensley P, Colman DR, Hendrickson WA (1996) Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 17:435-449
177. Sherman DL, Fabrizi C, Gillespie CS, Brophy PJ (2001) Specific disruption of a Schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 30:677-687
178. Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF (2001) Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 68:598-605
179. Smeyne RJ, Klein R, Schnapp A, Long LK, Bryant S, Lewin A, Lira SA, Barbacid M (1994) Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene. Nature 368:246-249
180. Stogbauer F, Young P, Timmerman V, Spoelders P, Ringelstein EB, Van Broeckhoven C, Kurlemann G (1997) Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25. Hum Genet 99:685-687
181. Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P (1999) Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology 52:1010-1014
182. Street VA, Goldy JD, Golden AS, Tempel BL, Bird TD, Chance PF (2001) Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies. Am J Hum Genet 70:1
183. Suchyna TM, Xu LX, Gao F, Fourtner CR, Nicholson BJ (1993) Identification of a proline residue as a transduction element involved in voltage gating of gap junctions. Nature 365:847-849
184. Suter U, Moskow JJ, Welcher AA, Snipes GJ, Kosaras B, Sidman RL, Buchberg AM, Shooter EM (1992) A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse. Proc Natl Acad Sci U S A 89:4382-4386
185. Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL, Shooter EM (1992) Trembler mouse carries a point mutation in a myelin gene. Nature 356:241-244
186. Swanson AG (1963) Congenital insensitivity to pain and anhydrosis. Arch Neurol 8:299
187. Tabaraud F, Lagrange E, Sindou P, Vandenberghe A, Levy N, Vallat JM (1999) Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings. Muscle Nerve 22:1442-1447
188. Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M (1997) A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol 41:771-780
189. Takashima H, Nakagawa M, Suehara M, Saito M, Saito A, Kanzato N, Matsuzaki T, Hirata K, Terwilliger JD, Osame M (1999) Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromuscul Disord 9:368-371
190. Thomas PK, King RH, Small JR, Robertson AM (1996) The pathology of Charcot-Marie-Tooth disease and related disorders. Neuropathol Appl Neurobiol 22:269-284
191. Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (1999) Novel missense mutation in the early growth response 2 gene associated with Déjerine-Sottas syndrome phenotype. Neurology 52:1827-1832
192. Timmerman V, De Jonghe P, Simokovic S, Lofgren A, Beuten J, Nelis E, Ceuterick C, Martin JJ, Van Broeckhoven C (1996) Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. Hum Mol Genet 5:1065-1069
193. Timmerman V, Lofgren A, Le Guern E, Liang P, De Jonghe P, Martin J, Verhalle D, Robberecht W, Gouider R, Brice A, Van Broeckhoven C (1996) Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). Hum Genet 97:26-34
194. Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen B, Chen K, Wang S, Ben Othman K, Cullen B, Leach R, Hanemann C, et al. (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1:171-175
195. Tobler AR, Notterpek L, Naef R, Taylor V, Suter U, Shooter EM (1999) Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction. J Neurosci 19:2027-2036
196. Tooth HH (1886) The perone type of progressive muscular atrophy. London: HK Lewis and Co 1886
197. Topilko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi AB, Seitanidou T, Babinet C, Charnay P (1994) Krox-20 controls myelination in the peripheral nervous system. Nature 371:796-799
198. Valentijn L, Baas F, Wolterman R, Hoogendijk J, Van den Bosch H (1992) Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 2:288-290
199. Valentijn LJ, Baas F, Zorn I, Hensels GW, de Visser M, Bolhuis PA (1993) Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 2:2143-2146
200. Vallat J, Sindou P, Preux P, Tabaraud P, Milor A-M, Couratier P, LeGuern E, Brice A (1996) Ultrastructural PMP 22 Expression in Inherited Demyelihating Neuropathies. Ann Neurol 39:813-817
201. van Alfen N, van Engelen BG, Reinders JW, Kremer H, Gabreels FJ (2000) The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types? Brain 123:718-723
202. Vance J, Nicholson G, Yamaoka L, Stajich J, Stewart C, Speer M, Hung W, Roses A, Barker D, Pericak-Vance M (1989) Linkage of Charcot-Marie-Tooth neuropathy type la to chromosome 17. Exp Neurol 104:186-189
203. Vance JM, Speer MC, Stajich JM, West S, Wolpert C, Gaskell P, Lennon F, Tim RM, Rozear M, Othmane KB, et al. (1996) Misclassification and linkage of hereditary sensory and autonomic neuropathy type 1 as Charcot-Marie-Tooth disease, type 2B. Am J Hum Genet 59:258-262
204. Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V (2001) Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet 69:889-894
205. Villanova M, Timmerman V, De Jonghe P, Malandrini A, Rizzuto N, Van Broeckhoven C, Guazzi G, Rossi A (1998) Charcot-Marie-Tooth disease: an intermediate form. Neuromuscul Disord 8:392-393
206. Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodny EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR (1996) Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot-Marie-Tooth Type 1B, Déjerine-Sottas, and Congenital Hypomyelination. Neuron 17:451-460
207. Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382-384
208. 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
209. Watts GD, O'Briant KC, Borreson TE, Windebank AJ, Chance PF (2001) Evidence for genetic heterogeneity in hereditary neuralgic amyotrophy. Neurology 56:675-678
210. Werner R, Levine E, Rabadan-Diehl C, Dahl G (1991) Gating properties of connexin32 cell-cell channels and their mutants expressed in Xenopus oocytes. Proc R Soc Loud B Biol Sci 243:5-11
211. rd Edition edn. WB Saunders, Philadelphia, pp 1137-1148
212. Yoshioka R, Dyck PJ, Chance PF (1996) Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 46:569-571
213. Young P, Stogbauer F, Wiebusch H, Lofgren A, Timmerman V, Van Broeckhoven C, Ringelstein EB, Assmann G, Funke H (1998) PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A. Neurology 50:760-763
214. Young P, Wiebusch H, Stogbauer F, Ringelstein B, Assmann G, Funke H (1997) A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology 48:450-452
215. Zhang K, Filbin MT (1998) Myelin Po protein mutated at Cys21 has a dominant-negative effect on adhesion of wild type Po. J Neurosci Res 53:1-6
216. Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N (2001) Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105:587-597
217. Zhu Q, Couillard-Despres S, Julien JP (1997) Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol 148:299-316