Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings

Muscle and Nerve

Volumn 22, Issue 10, 1999, Pages 1442-1447

  Tabaraud, F ^a   Lagrange, E ^a   Sindou, P ^a   Vandenberghe, A ^b   Levy, N ^c   Vallat, J M ^a  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ LYON 1   (France)

^c TIMONE HOSPITAL   (France)

Author keywords

Charcot Marie Tooth disease; Connexin 32; Electrodiagnosis; Myelin proteins; Nerve biopsy

Indexed keywords

AGED; ARTICLE; CASE REPORT; DEMYELINATING DISEASE; DISEASE SEVERITY; ELECTRODIAGNOSIS; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE BIOPSY; NERVE CONDUCTION; PRIORITY JOURNAL; SENSORIMOTOR NEUROPATHY;

ACTION POTENTIALS; AGED; CHARCOT-MARIE-TOOTH DISEASE; DEMYELINATING DISEASES; ELECTROPHYSIOLOGY; FEMALE; HUMANS; LINKAGE (GENETICS); MOTOR NEURONS; NERVE FIBERS, MYELINATED; NEURAL CONDUCTION; TIME FACTORS; X CHROMOSOME;

EID: 0032866609     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199910)22:10<1442::AID-MUS16>3.0.CO;2-6     Document Type: Article

References (40)

1. Allan W. Relation of hereditary pattern in clinical severity as illustrated by peroneal atrophy. Arch Intern Med 1939;63: 1123-1131.
2. Anzini P, Neuberg DH, Schachner M, Nelles E, Willecke K, Zielasek J, Toyka KV, Suter U, Martini R. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin-32. J Neurosci 1997;17:4545-4551.
3. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DJ, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-2042.
4. Birouk N, Le Guern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Lèger JM, Agid Y, Brice A, Bouche P. X-linked Charcot-Marie-Tooth disease with connexin-32 mutations: clinical and electrophysiologic study. Neurology 1998;50:1074-1082.
5. Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, Fischbeck KH. New connexin-32 mutations associated with X-linked Charcot-Marie-Tooth. Neurology 1995;45:1863-1866.
6. Bone LJ, Deschenes JM, Balice Gordon RJ, Fischbeck KH, Scherer SS. Connexin-32 and X-linked Charcot-Marie-Tooth disease. Neurobiol Dis 1997;4:221-230.
7. Bruzzone R, White TW, Paul DL. Connections with connexin: the molecular basis of direct intercellular signaling. Eur J Biochem 1996;238:1-27.
8. Bruzzone R, White TW, Scherer SS, Fischbeck KH, Paul DL. Null mutations of connexin-32 in patients with X-linked Charcot-Marie-Tooth disease. Neuron 1994;13:1253-1260.
9. De Jonghe P, Timmerman V, Nalis E, Martin JJ, Van Broeckhoven C. Charcot-Marie-Tooth disease and related peripheral neuropathies.J Periph Nerve Sys 1997;2:370-387.
10. Dermietzel R, Spray DC. Gap-junctions in the brain: where, what type, how many and why ? Trends Neurosci 1993;16: 186-192.
11. Deschenes SM, Walcott JL, Wexler TL, Scherer SS, Fischbeck KH. Altered trafficking of mutant connexin 32. J Neurosci 1997;17:9077-9084.
12. Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, editors. Peripheral neuropathy. Philadelphia: Saunders; 1993:1094-1136.
13. Fischbeck KH, Ar Rushdi N, Pericak-Vance M, Rozear MP, Roses AD, Fryns JP. X-linked neuropathy: gene localization with DNA probes. Ann Neurol 1986;20:527-532.
14. Guttierez A, England JD, Ferrer SS, Sumner AJ, Warner LE, Lupski JR, Garcia CA. Unusual electrophysiological findings in a family CMT-X. Neurology 1998;4:A74.
15. Hahn AF, Brown WF, Koopman WJ, Feasby TE. X-linked dominant hereditary motor and sensory neuropathy. Brain 1990; 113:1511-1525.
16. Harding AE. From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain 1995; 118:809-818.
17. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathies type I and II. Brain 1980; 103:259-280.
18. Ionasescu VV. Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 1995;18: 267-275.
19. Ionasescu VV, Ionasescu R, Searby C. Correlation between connexin-32 gene mutation and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am J Med Genet 1996;63:486-491.
20. Ionasescu VV, Searby C, Ionasescu R, Neuhaus IM, Werner R. Mutations of the noncoding region of the connexin-32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1996;47:541-544.
21. Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA. Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology 1993;43:2664-2667.
22. Latour P, Levy N, Paret M, Chapon F, Chazot G, Clavelou P, Couratier P, Dumas R, Allagnon E, Pouget J, Setiey A, Vallat JM, Boucherat M, Fontes M, Vandenberghe A. Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. Neurogenetics 1997;1:117-123.
23. Lewis RA, Sumner AJ. The electrodiagnostic distinctions between chronic familial and acquired demyelinating neuropathies. Neurology 1982;32:592-596.
24. Lupski JR, de Oca Luna RM, Slangenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chokroverty A, Patel PI. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
25. Mostacciuolo MI., Muller E, Fardin P, Micaglio GF, Bardoni B, Guioli S, Camerino G, Danieli GA. X-linked Charcot-Marie-Tooth disease. A linkage study in a large family by using 22 probes of pericentromeric region. Hum Genet 1991;87: 23-27.
26. Neuberg DH, Carenini S, Schachner M, Martini R, Suter U. Accelerated demyelination of peripheral nerves in mice deficient in connexin-32 and protein P0. J Neurosci Res 1998;53: 542-550.
27. Oh S, Ri Y, Bennett MV, Trexler EB, Verselis VK, Bargiello TA. Changes in permeability caused by connexin-32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron 1997;19:927-938.
28. Omori Y, Mesnil M, Yamasaki H. Connexin-32 mutations from X-linked Charcot-Marie-Tooth disease patient: functional defects and dominant negative effects. Mol Biol Cell 1996;7: 907-916.
29. Ressot C, Gomes D, Dautigny A, Pham-Dinh D, Bruzzone R. Connexin-32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties. J Neurosci 1998;18: 4063-4075.
30. Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC, Krendel DA, Graham DG, Dawson DV, Roses AD. Hereditary motor and sensory neuropathy X-linked: a half century follow up. Neurology 1987;37:1460-1465.
31. Sahenk Z, Chen L. Abnormalities in the axonal cytoskeleton induced by a connexin-32 mutation in nerve xenografts. J Neurosci Res 1998;51:174-184.
32. Scherer SS, Deschenes SM, Xu YT, Grinspan JG, Fischbeck KH, Paul DL. Connexin-32 in a myelin related protein in the PNS and CNS. J Neurosci 1995;15:8281-8294.
33. Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone I.J. Connexin-32 null mice develop demyelinating peripheral neuropathy. Glia 1998;24:8-20.
34. Schiavon F, Fracasso C, Mostacciuolo ML. Novel missense mutation of the connexin-32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mutat 1996;8:83-84.
35. Senderek J, Bergmann C, Quasthoff S, Ramaekers VT, Schröder JM. X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin-32 mutations (Arg15Trp, Arg22Gln). Acta Neuropathol 1998;95:443-449.
36. Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgard F, Aula P, Savontaus ML. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum Mutat 1998;12:59-68.
37. Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen T, Aula P, Savontaus ML. Screening for connexin-32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance. Hum Genet 1997;100:391-397.
38. Tan CC, Ainsworth PJ, Hahn AF, Mac Leod PM. Novel mutations in the connexin-32 gene associated with X-linked Charcot-Marie-Tooth disease. Hum Mutat 1996;7:167-171.
39. Vance JM. Hereditary motor and sensory neuropathies. J Med Genet 1991;28:1-5.
40. Yoshimura T, Satake M, Ohnishi A, Tsutsumi Y, Fujikura Y. Mutations of connexin-32 in Charcot-Marie-Tooth disease type xinterfere with cell to cell communication but not cell proliferation and myelin specific gene expression. J Neurosci Res 1998;51:154-161.