Charcot-Marie-Tooth disease: Electromyography is still useful in diagnosis and classification;Maladie de Charcot-Marie-Tooth: l'Electromyogramme reste utile au diagnostic et a la classification

Revue Neurologique

Volumn 153, Issue 12, 1997, Pages 727-736

  Birouk, N ^a   Maisonobe, T ^a   Le Forestier, N ^a   Gouider, R ^a   Leger J M ^a   Bouche, P ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; CHROMOSOME 17; CHROMOSOME DUPLICATION; CHROMOSOME MUTATION; CONTROLLED STUDY; DISEASE CLASSIFICATION; ELECTROMYOGRAPHY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MOTOR NERVE CONDUCTION; ONSET AGE; REVIEW;

CHARCOT-MARIE-TOOTH DISEASE; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; HUMANS;

EID: 0031438629     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (74)

1. AMICK L.D. LEMNI H. (1963). Electromyographic studies in peroneal muscular atrophy. Arch Neurol, 9 : 273-283.
2. ARAMIDEH M., HOOGENDIJK J.E., AALFS C.M., POSTHUMUS MEYJES F.E., DE VISSER M., ONGERBOER DE VISSER B.W. (1992). Somatosensory evoked potentials, sensory nerve potentials and sensory nerve conduction in hereditary motor and sensory neuropathy type 1. J Neurol, 239 : 277-283.
3. BEN OTHMANE K., HENTATI F., LENNON F. et al. (1993a). Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet, 2 : 1625-1628.
4. BEN OTHMANE K., MIDDLETON K., LOPREST L.J. et al. (1993b). Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1 p. and evidence of genetic heterogeneity. Genomics, 17 : 370-375.
5. BENSTEAD T.J., KUNTZ N.L., MILLER R.., DAUBE J.R. (1990). The electrophysiologic profile Déjerine-Sottas disease (HMSN III). Muscle Nerve, 13 : 586-592.
6. BERCIANO J., COMBARROS O., CALLEJA J., POLO J.M., LENO C . (1989). The application of nerve conduction and clinical studies to genetic councelling in hereditary motor and sensory neuropathy type 1. Muscle Nerve, 12 : 302-306.
7. BERGOFFEN J.A., SHERER S.S., WANG S. et al. (1993). Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science, 262 : 2039-2042.
8. BIRD T.D., OTT J., GIBLETT E.R. (1982). Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet, 34 : 388-394.
9. BOUCHE P., GHERARDI R., CATHALA H.P., LHERMITTE F., CASTAIGNE P. (1983). Peroneal muscular atrophy. I. Clinical and electrophysiological study. J Neurol Sci, 61 : 389-399.
10. BOUCHE P., OUESLATI S., GIRARD M., JULIEN A.M., CATHALA H.P.. (1990). Electrophysiological study of 231 patients with peroneal muscular atrophy type I and II: heterogeneity according to Duffy locus linkage. In: Lovelace R.E., Shapiro eds. Charcot-Marie-Tooth disorders: pathophyisology, molecular genetics and therapy. New York: Wiley-Liss, 101-109.
11. BRUST J.C.M., LOVELACE R.E., DEVI S. (1978). Clinical and electrodiagnostic features of Charcot-Marie-Tooth syndrome. Acta Neurol Scand, Suppl 68 : 1-142.
12. BUCHTHAL F., BEHSE F. (1977). Peroneal muscular atrophy (PMA) and related disorders. 1. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain, 100 : 41-66.
13. CARTER G.T., KILMER D.D., BONEKAT H.W., LIEBERMAN J.S., FOWLER W.N. (1992). Evaluation of phrenic nerve and pulmonary function in hereditary motor and sensory neuropathy, type I. Muscle Nerve, 15 : 459-462.
14. CHARCOT J.M., MARIE P. (1986). Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med Paris, 6 : 97-138.
15. CLAUS D., WADDY H.M., HARDING A.E., MURRAY N.M.F., THOMAS P.K. (1990). Hereditary motor and sensory neuropathies and hereditary spastic paraplegia: a magnetic stimulation study. Ann Neurol, 28 : 43-49.
16. COMBARROS O., CALLEJA J., FIGOLS J., CABELLO A., BERCIANO J. (1983). Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families. J Neurol Sci, 61 : 181-191.
17. DAVIS C.J., BRADLEY W.G., MADRID R. (1978). The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum, 26 : 311-349.
18. DAWSON G.D., SCOTT J.W. (1949). The recording of nerve action potentials through skin in man. J Neurol Neurosurg Psychiatry, 12 : 259-267.
19. DEJERINE J., SOTTAS J. (1993). Sur la névrite interstitielle, hypertrophie et progressive de l'enfance. C.R. Soc Biol, 45 : 63-96.
20. DYCK P.J., KARNES J.L., LAMBERT E.H. (1989). Longitudinal study of neuropathic deficits and nerve conduction abnormalities in hereditary motor and sensory neuropathy type I. Neurology, 39 : 302-308.
21. DYCK P.J., LAMBERT E.H. (1968a). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic Genetic, and electrophysiologic findings in hereditary neuropathies. Arch Neurol, 18 : 603-618.
22. DYCK P.J., LAMBERT E.H. (1968b). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic Genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol, 18 : 619-625.
23. DYCK P.J. (1975). Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons. In: Dyck P.J., Thomas P.K., Lambert E.H. eds. Peripheral Neuropathy. Philadelphia, W.B. Saunders, 825-867.
24. FRITH J.A. MCLEOD J.G., NICHOLSON G.A., YANG F. (1994). Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred. J Neurol Neurosurg Psychiatry, 57 : 1343-1346.
25. GABREËLS-FESTEN A.A.W.N., GABREËLS F.J.M., JENNEKENS F.G.I., JOOSTEN E.M.G., JANSSEN-VAN-KEMPEN T.W. (1992). Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology, 42 : 1755-1761.
26. GILLIATT R.W., THOMAS P.K. (1957). Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann Phys Med, 4 : 104-106.
27. GJERSTAD L., NYBERG-HANSEN R., GANES T. (1988). Visual evoked responses in hereditary motor and sensory neuropathies. Acta Neurol Scand, 77 : 215-219.
28. HAHN A.F., BROWN W.F, KOOPMAN W.J., FEASBY T.E. (1990). X-linked dominant hereditary motor and sensory neuropathy. Brain, 13 : 1511-1525.
29. HARDING A.E., THOMAS P.K. (1980a). The clinical features of hereditary motor and sensory neuropathy types I and II. Brain, 103 : 259-280.
30. HARDING A.E., THOMAS P.K. (1980b). Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry, 43 : 669-678.
31. HARDING A.E., THOMAS P.K. (1984). Peroneal muscular atrophy with pyramidal features. J Neurol Neurosurg Psychiatry, 47 : 168-172.
32. HAYASAKA K., HIMORO M., SATO W et al. (1993a). Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet, 5 : 31-34.
33. HAYASAKA K., HIMORO M., SAWAISHI Y. et al. (1993b). De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet, 5 : 266-268.
34. HODES R., LARRABEE M.G., GERMAN W. (1948). The human electromyogram in response to nerve stimulation and the conduction velocity of motor axons. Arch Neurol Psychiatr, 60 : 340-365.
35. HONAN W.P., HERON J.R., FOSTER D.H., EDGAR G.K., SCASE M.O. (1993). Abnormalities of visual function in hereditary motor ans sensory neuropathy. J Neurol Sci, 114 : 188-192.
36. HOOGENDIJK J.E., DE VISSER M., BOUR L.J., JENNEKENS F.G.I., ONGERBOER B.W. (1992). Conduction block in hereditary motor and sensory neuropathy type I. Muscle Nerve, 15 : 520-521.
37. HOOGENDIJK J.E., DE VISSER M., BOLHUIS P.A., HART A., ONGERBOER DE VISSER B.W. (1994). Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve, 17 : 85-90.
38. INGALL T.J., MCLEOD J.G. (1991). Autonomic fucntion in hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Muscle Nerve, 14 : 1080-1083.
39. IONASESCU V.V. (1995). Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve, 18 : 267-275.
40. KAKU D.A., PARRY G.J., MALAMUT R., LUPSKI J.R., GARCIA C.A. (1993a). Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology, 43 : 1806-1808.
41. KAKU D.A., PARRY G.J., MALAMUT R., LUPSKI J.R., GARCIA C.A. (1993b). Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1. Neurology, 43 : 2624-2667.
42. KAKU D.A., ENGLAND J.D., SUMNER A.J. (1994). Distal accentuation of conduction slowing in polyneuropathy associated with antibodies to myelin-associated glycoprotein and sulfated glucronyl paragloboside. Brain, 117 : 941-947.
43. KILLIAN J.M., TIWARI P.S., JACOBSON S., JAKSON R.D., LUPSKI J.R. (1996). Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve, 19 : 74-78.
44. KRIEL R.L., CLIFFER K.D., BERRY J., SUNG J.H., BLAND C.S. (1974). Investigation of a family with hypertrophic neuropathy resembling Roussy-Lévy syndrome. Clinical, electrophysiologic, histologic, and biochemical studies. Neurology, 24 : 801-809.
45. KWON J.M., ELLIOTT J.L., YEE W.-C. et al. (1995). Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet, 57 : 853-858.
46. LAMBERT E.H. (1956). Clinical examinations in neurology. Philadelphia: WB Saunders, 287-317.
47. LAPRESLE J. (1982). La dystasie aréflexique héréditaire de Roussy-Lévy. Ses rapports historiques avec la maladie de Friedreich, l'atrophie Charcot-Marie-Tooth et la névrite hypertrophique de Déjerine-Sottas ; l'état actuel de la famille originale ; la place nosologique de cette entité. Rev Neurol, 1-38 : 967-978.
48. LEWIS R.A., SUMNER A.J. (1982). The électrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies. Neurology, 32 : 592-596.
49. LUPSKI J.R., DE OCA-LUNA R.M., SLAUGENHAUPT S. et al. (1991). DNA duplication associated with Charcot-Marie-Tooth disease type la. Cell, 66 : 219-232.
50. MAISONOBE T., CHASSANDE B., VÉRIN M., JOUNI M., LEGER J.M., BOUCHE P. (1996). Chronic dysimmune demyelinating polyneuropathy: a clinical and electrophysiological study of 93 patients. J Neurol Neurosurg Psychiatry, 61 : 36-42.
51. MYRIANTHOPOULOS N.C., LANE M.H., SILBERBERG D.H., VINCENT B.L. (1964). Nerve conduction and other studies in families with Charcot-Marie-Tooth disease. Brain, 87 : 589-607.
52. NICHOLSON G.A., NASH J. (1993). Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology, 43 : 2558-2564.
53. NICHOLSON G.A. (1991). Penetrance of hereditary motor and sensory neuropathy mutation: Assessment by nerve conduction studies. Neurology, 41 : 547-552.
54. OH S.J., CHANG C.W. (1987). Conduction block and dispersion in hereditary motor and sensory neuropathy. Muscle Nerve, 10 : 656A.
55. OHNISHI A., MURAI Y., IKEDA M., FUJITA T., FURUYA H., KUROIWA Y. (1989). Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding. Muscle Nerve, 2 : 568-575.
56. OUVRIER R.A., MCLEOD J.G., CONCHIN T.E. (1987). The hypertrophic forms of hereditary motor ans sensory neuropathy. A study of Hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain, 110 : 121-148.
57. PATEL P.I., ROA B.B., WELCHER A.A. et al. (1992). The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type IA. Nat Genet, 1 : 159-165.
58. PENICAUD A., MEUNIER S., LECANUET P., LAFFONT F., CATHALA H.P. (1990). Evoked potentials in Charcot-Marie-Tooth disease. In: Rossini P.M., Mauguière F. eds. New Trends and advanced techniques in clinical neurophysiology Elsevier Science Publishers B.V., (EEG Suppl. 4) : 243-248.
59. QUATTRONE A., GAMBARDELLA A., BONO F. et al. (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.
60. ROA B.B., DYCK P.J., MARKS H.G., CHANCE P.F., LUPSKI J.R. (1993). Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet, 5 : 269-273.
61. ROUSSY G., LEVY G. (1926). 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, 2 : 427-450.
62. ROY E.P., GUTMANN L., RIGGS J.E. (1989). Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. Muscle Nerve, 2 : 52-55.
63. ROZEAR M.P., PERICAK-VANCE M.A., FISCHBECK K. et al. (1987). Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. Neurology, 37 : 1460-1465.
64. SALISACHS P. (1974). Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation. J Neurol Sci, 23 : 25-31.
65. SCHNIDER A., HESS C.W., KOPPI S. (1991). Central motor conduction in a family with hereditary motor and sensory neuropathy with pyramidal signs (HMSN V). J Neurol Neurosurg Psychiatry, 4 : 511-515.
66. SERRATRICE G., POUGET J., PELLISSIER J.F., CROS D. (1989). Neuromyotonie sensible à la Carbamazépine et maladie de Charcot-Marie-Tooth de type neuronal. Rev Neurol, 145 : 867-868.
67. SOLDERS G., ANDEESSON T., PERSSON A. (1991). Central conduction and autonomic nervous function in HMSN 1. Muscle Nerve, 14 : 1074-1079.
68. STREIB E.W., SUN S.F., KIMBERLING W., SMITH S.A. (1984). Hypertrophic form of peroneal muscular atrophy (PMA): unusual nerve conduction results. Muscle Nerve, 7 : 32-34.
69. SUMNER A.J. (1992). Conduction block in hereditary motor and sensory neuropathy type I: a reply. Muscle Nerve, 15 : 523.
70. TOOTH H.H. (1986). The peroneal type of progressive muscular atrophy. London, H.K. Lewis.
71. TROJABORG W., HAYS A.P., VAN DEN BERG L., YOUNGER D.S., LATOV N. (1995). Motor conduction parameters in neuropathies associated with anti-MAG antibodies and other types of demyelinating and axonal neuropathies. Muscle Nerve, 18 : 730-735.
72. VALENTIJN L.J., BOLHUIS P.A., ZORN I. et al. (1992). The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet, 1 : 166-170.
73. VASILESCU C., ALEXIAN M. DAN A. (1984). Neuronal type of Charcot-Marie-Tooth disease with a syndrome of continuous motor unit activity. J Neurol Sci, 63 : 11-25.
74. YUDELL A., DYCK P.J., LAMBERT E.H. (1965). A kinship with the Roussy-Levy syndrome.A clinical and electrophysiologic study. Arch Neurol, 13 : 432-440.