Charcot-Marie-Tooth disease;La maladie de Charcot-Marie-Tooth

Presse Medicale

Volumn 38, Issue 2, 2009, Pages 200-209

  Birouk, Nazha ^a  

^a Hopital des Specialites Rabat   (Morocco)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32; LAMIN A; LAMIN C;

AUTOSOMAL DOMINANT INHERITANCE; BRAIN ELECTROPHYSIOLOGY; CLINICAL FEATURE; DEMYELINATING DISEASE; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE DUPLICATION; GENE LOCUS; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MUSCLE ATROPHY; PATHOPHYSIOLOGY; PERONEUS MUSCLE; POINT MUTATION; SHORT SURVEY; X CHROMOSOME RECESSIVE INHERITANCE;

AXONS; CHARCOT-MARIE-TOOTH DISEASE; DEMYELINATING DISEASES; DISEASE PROGRESSION; ELECTROPHYSIOLOGY; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MUSCLE, SKELETAL; PHENOTYPE; PROTEINS;

EID: 58649094848     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2008.07.013     Document Type: Short Survey

References (73)

1. Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6 (1974) 98-118
2. Birouk N., and Bouche P. Polyneuropathies sensitivomotrices héréditaires : maladie de Charcot-Marie-Tooth. In: Bouche P., Leger J.M., and Vallat J.M. (Eds). Neuropathie périphériques, polyneuropathies et mononeuropathies multiples 2 (2004), Doin editeurs, Paris 273-322
3. Bouche P., Gherardi R., Cathala H.P., Lhermitte F., and Castaigne P. Peroneal muscular atrophy. Part I Clinical and electrophysiological study. J Neurol Sci 61 (1983) 389-399
4. Birouk N., Maisonobe T., Le Forestier N., Gouider R., Léger J.M., and Bouche P. Maladie de Charcot-Marie-Tooth : l'électromyogramme reste utile au diagnostic et à la classification. Rev Neurol 153 (1997) 727-736
5. Dyck P.J. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck P.J., Thomas P.K., and Lambert E.H. (Eds). Peripheral Neuropathy II (1975), WB Saunders, Philadelphia 825-867
6. Dyck P.J. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck P.J., Thomas P.K., Lambert E.H., and Bunge R. (Eds). Peripheral Neuropathy II (1984), WB Saunders, Philadelphia 1600-1655
7. Reilly M.M. Classification of the hereditary motor and sensory neuropathies. Current Opinion in Neurology 13 (2000) 561-564
8. Dubourg O., Tardieu S., Birouk N., Gouider R., Léger J.M., Maisonobe T., et al. The frequency of 17p11.2 duplication and connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity. Neuromuscul Disord 11 (2001) 458-463
9. Birouk N., Gouider R., Le Guern E., Gugenheim M., Tardieu S., Maisonobe T., et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication: clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120 (1997) 813-823
10. Thomas P.K., Marques W., Daviq M.B., Sweeney M.G., King R.H., Bradley J.L., et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120 (1997) 465-478
11. French CMT Collaborative Research Group, Lopes J., LeGuern E., Gouider R., Tardieu S., Abbas N., Birouk N., et al. Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. Am J Hum Genet 58 (1996) 1223-1230
12. Vallat J.M., Sindou P., Preux P.M., Tabaraud F., Milor A.M., Couratier P., et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 39 (1996) 813-817
13. Young P., and Suter U. Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease. Brain Research Reviews 36 (2001) 213-221
14. Roa B.B., Dyck P.J., Marks H.G., Chance P.F., and Lupski J.R. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5 (1993) 269-273
15. Le Guern E., Birouk N., Guilbot A., Lopes J., Rouger H., Tardieu S., et al. La maladie de Charcot-Marie-Tooth. Annales de l'Institut Pasteur 7 3 (1996) 179-185
16. Shapiro L., Doyle J.P., Hensley P., Colman D.R., and Hendrickson W.A. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 17 (1996) 435-449
17. Gabreëls-Festen A.A.W.M., Hoogendijk J.E., Meijerick P.H., Gabreëls F.J., Bolhuis P.A., van Beersum S., et al. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 47 (1996) 761-765
18. Marrosu M.G., Vaccargiu S., Marrosu G., Vanelli A., Cianchetti C., and Muntoni F. Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. Neurology 50 (1998) 1397-1401
19. Chapon F., Latour P., Diraison P., Schaeffer S., and Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated witn a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 66 (1999) 779-782
20. Dubourg O., Tardieu S., Birouk N., Gouider R., Léger J.M., Maisonobe T., et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 124 (2001) 1958-1967
21. Bergoffen J., Scherer S.S., Wang S., Scott M.O., Bone L.J., Paul D.L., et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262 (1993) 2039-2042
22. Shy M.E., Garbern J.Y., and Kamholz J. Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol 1 (2002) 110-118
23. Birouk N., Le Guern E., Maisonobe T., Rouger H., Gouider R., Tardieu S., et al. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations, clinical and electrophysiologic study. Neurology 50 (1998) 1074-1082
24. Hattori N., Yamamoto M., Yoshihara T., Koike H., Nakagawa M., Yoshikawa, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin related proteins (PMP22,MPZ and C × 32): a clinicopathological study of 205 Japanese patients. Brain 126 (2003) 134-151
25. Scherer S.S., and Fischbeck K.H. Is CMTX an axonopathy?. Neurology 52 (1999) 432-433
26. Hahn A.F., Ainsworth P.J., Bolton C.F., Bilbao J.M., and Vallat J.M. Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis. Acta Neuropathol 101 (2001) 129-139
27. Vital A., Ferrer X., Lagueny A., Vandenberghe A., Latour P., Goizet C., et al. Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations. J Peripher Nerv Syst 6 (2001) 79-84
28. Ben Othmane K., Middelton L.T., Loprest L.J., Wilkinson K.M., Lennon F., Rozear M.P., et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17 (1993) 370-375
29. Timmerman V., De Jonghe P., Spoelders P., Simokovic S., Löfgren A., Nelis E., et al. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosome 1p35-p36 and Xq13. Neurology 46 (1996) 1311-1318
30. 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 KIF1Bbeta. Cell 105 (2001) 587-597
31. Zuchner S., Mersiyanova I.V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E.L., et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2. Nature Genet 36 (2004) 449-451
32. Elliott J.L., Kwon J.M., Goodfellow P.J., and Yee W.C. Hereditary motor and sensory neuropathy IIB: clinical and electrodiagnostic characteristics. Neurology 48 (1997) 23-28
33. Auer-Grumbach M., De Jonghe P., Wagner K., Verhoeven K., Hartung H.P., and Timmerman V. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology 55 (2000) 1552-1557
34. Verhoeven K., De Jonghe P., Coen K., Verpoorten N., Auer-Grumberg M., Kwon J.M., et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 72 (2003) 722-727
35. Ben Othmane K., Hentati F., Lennon F., Ben Hamida C., Blel S., Roses A.D., et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Molecul Genet 2 (1993) 1625-1628
36. Cuesta A., Pedrola L., Sevilla T., Garcia-Planells J., Chumillas M.J., Mayodorno F., et al. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 30 (2002) 22-25
37. Pedrola L., Espert A., Wu X., Claramunt R., Shy M.E., and Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 14 (2005) 1087-1094
38. Niemann A., Ruegg M., La Padula V., Schenone A., and Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. 1. J Cell Biol 170 7 (2005) 1067-1078
39. De Sandre-Giovannoli A., Chaouch M., Boccaccio I., Bernard R., Delague V., Grid E., et al. Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. J Med Genet 4 (2003) e87
40. Birouk N., Azzedine H., Dubourg O., Muriel M.P., Benomar A., Hamadouche T., et al. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch Neurol 60 (2003) 598-604
41. Nelis E., Erdem S., Van Den Bergh P.Y., Belpaire-Dethiou M.C., Ceuterick C., Van Gerwen V., et al. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59 (2002) 1865-1872
42. Senderek J., Bergmann C., Ramaekers V.T., Nelis E., Bernert G., Makowski A., et al. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 126 (2003) 642-649
43. Bolino A., Muglia M., Conforti F.L., LeGuern E., Salih M.A., Georgiou D.M., et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nature Genet 25 (2000) 17-19
44. Othmane K.B., Johnson E., Menold M., Graham F.L., Hamida M.B., Hasegawa O., et al. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. Genomics 62 (1999) 344-349
45. Azzedine H., Bolino A., Taïeb T., Birouk N., Di Duca M., Bonhouche A., et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet 72 (2003) 1141-1153
46. Senderek J., Bergmann C., Weber S., Ketelsen U.P., Schorle H., Rudnik-Schöneborn 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 Molec Genet 12 (2003) 349-356
47. Quattrone A., Gambardella A., Bono F., Aguglia U., Bolino A., Bruni A.C., et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology 46 (1996) 1318-1324
48. Le Guern E., Guilbot A., Kessali M., Ravisé N., Tassin J., Maisonobe T., et al. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Molec Genet 5 (1996) 1685-1688
49. 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 Med Genet 73 (2003) 1106-1119
50. 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 48 (1997) 867-873
51. Kalaydjieva L., Hallmayer J., Chandler D., Savov A., Nikolova A., Angelicheva D., et al. Gene mapping in gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nature Genet 14 (1996) 214-217
52. 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 121 (1998) 399-408
53. Butinar D., Zidar J., Leonardis L., Popovic M., Kalaydjieva L., Angelicheva D., et al. Hereditary Auditory, vestibular, motor and sensory neuropathy in Slovenian Roma (Gypsy) kindred. Ann Neurol 46 (1999) 36-44
54. Kalaydjieva L., Gresham D., Gooding R., Heather L., Baas F., de Jonge R., et al. N-myc downstraem-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet 67 (2000) 47-58
55. Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Molec Genet 200;10:415-21.
56. 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 67 (2000) 236-243
57. Boerkoel C.F., Takashima H., Stankiewicz P., Garcia C.A., Leber S.M., Rhee-Morris L., et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 68 (2001) 325-333
58. Bouhouche A., Benomar A., Birouk N., Mularoni A., Meggou F., Tassin J., et al. 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 (1999) 722-727
59. De Sandre-Giovannoli A., Chaouch M., Kozlov S., Vallat J.M., 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 Hu. Genet 70 (2002) 726-736
60. Muchir A., Bonne G., Van der Kooi A.J., van Meegen M., Baas F., Bolhuis P.A., et al. Identification of mutations in the gene encoding lamin A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2 (2001) 165-174
61. Bonne G., Di Barletta M.R., Varnous S., Bécane H.M., Hammouda E.H., Merlini L., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genet 21 (1999) 285-288
62. Fatkin D., MacRae C., Sasaki T., Wolff M.R., Porcu M., Frenneaux M., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New Eng J Med 341 (1999) 1715-1724
63. Cao H., and Hegele R.A. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Molec Genet 9 (2000) 109-112
64. Novelli G., Muchir A., Sangiuolo F., Helbing-Leclerc A., D'Apice M.R., Massart C., et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71 (2002) 426-431
65. Tazir M., Azzedine H., Assami S., Sindou P., Nouioua S., Zemmouri R., et al. Phenotypic variability in autosomal recessive Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain 127 (2004) 154-163
66. Chaouch M., Allal Y., De Sandre-Giovannoli A., Vallat J.M., Amer-el-Khedoud A., Kassouri N., et al. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord 13 (2003) 60-67
67. Bouhouche A., Birouk N., Azzedine H., Benomar A., Durosier G., Ente D., et al. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. Brain 130 Pt 4 (2007) 1062-1075
68. Leal A., Morera B., Del Valle G., Heuss D., Kayer C., Berghoff M., et al. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am Hum Genet 68 (2001) 269-274
69. Barhoumi C., Amouri R., Ben Hamida C., Ben Hamida M., Machghoul S., Geddiche M., et al. Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromuscul Disord 11 (2001) 27-34
70. Guyton G.P., and Mann R.A. The pathogenesis and surgical management of foot deformity in Charcot-Marie-Tooth disease. Foot Ankle Clin 5 (2000) 317-326
71. Grandis M., and Shy M.E. Current Therapy for Charcot-Marie-Tooth Disease. Curr Treat Options Neurol 7 (2005) 23-31
72. Sereda M.W., Meyer Zu Hörste G., Suter U., Uzma N., and Nave K.A. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9 (2003) 1533-1537
73. Passage E., Norreel J.C., Noack-Fraissignes P., Sanguedolce V., Pizant J., Thirion X., et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10 (2004) 396-401