A clinical review of Charcot-Marie-Tooth

Annals of the New York Academy of Sciences

Volumn 883, Issue , 1999, Pages 69-76

  Garcia, Carlos A ^a  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN; PLLP PROTEIN, HUMAN; PROTEOLIPID;

CLASSIFICATION; GENE DUPLICATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; PATHOPHYSIOLOGY; REVIEW;

CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; GENE DUPLICATION; HUMANS; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PROTEOLIPIDS;

EID: 0033554331     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1999.tb08570.x     Document Type: Review

References (33)

1. GILLIAT, R. W. & P.K. THOMAS. 1957. Extreme slowing of nerve conduction in peroneal muscular atrophy. Ann. Phys. Med. 4: 104-106.
2. DYCK, P.J & E.H. LAMBERT. 1968. Lower motor and primary sensory neuron disease with peroneal muscular atrophy I. Neurologic, genetic and electrophysiological findings in hereditary polyneuropathies. Arch. Neurol. 18: 603-618.
3. DYCK, P.J. & E.H. LAMBERT. 1968. Lower motor and primary sensory neuron disease with peroneal muscular atrophy II. Neurologic, genetic and electrophysiological findings in various neuronal degenerations. Arch. Neurol. 18: 619-625.
4. THOMAS, P.K., D.B. CALNE & G. STEWART. 1974. Hereditary motor and sensory neuropathy (peroneal muscular atrophy). Ann. Hum. Genet. 38: 111-153
5. LUPSKI, J.R., C.A. GARCIA, G.J PARRY, et al. 1991. Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiologic, and genetic aspects. In Current Neurology. S. Appel, Ed.: 1-25. Mosby-Yearbook Co. St. Louis, MO.
6. BERCIANO, J., O. COMBARROS, J. CALLEJA, et al. 1989. The application of nerve conduction an clinical studies to genetic counseling in hereditary motor and sensory neuropathy type 1. Muscle Nerve 12: 302-306.
7. CARDOSO, F.D.C. & J. JANKOVIC. 1993. Hereditary motor-sensory neuropathy and movement disorders. Muscle Nerve 16: 904-910.
8. KUMAR S.J., H.G. MARKS, J.R. BOWEN, et al. 1985. Hip dysplasia associated with Charcot-Marie-Tooth disease in the older child and adolescent. J. Ped. Ortho. 5: 511-514.
9. EICHAKER P.Q. A. SPIRO, M. SHERMAN, et al. 1988. Respiratory muscle dysfunction in HMSN-I. Arch. Intern. Med. 148: 1739-1740.
10. RUDNIK-SHONEBORN, S., D. ROHRIG, G. NICHOLSON, et al. 1993. Pregnancy and delivery in CMT disease type 1. Neurology 43: 2011-2016.
11. GARCIA, C.A., R.E. MALAMUT, J.D. ENGLAND, et al. 1995. Clinical variability in two pairs of identical twins with the CMT disease type 1A duplication. Neurology 45: 2090-2093.
12. LEGUERN, E., R. GOUIDER, D. MABIN, et al. 1997. Patients homozygous for the 17p11.2 duplication in CMT1A disease. Ann. Neurol. 41: 104-108.
13. AUER-GRUMBACH, M., S. STRASSER-FUCHS, K. WAGNER, et al. 1997. Roussy-Lévy 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.
14. THOMAS, P.K., W. MARQUEZ, M.B. DAVIS, et al. 1997. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120: 465-478.
15. UNCINI, A., A. DI MUZIO, F. CHIAVAROLI, et al. 1994. Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication. Ann. Neurol. 35: 552-558.
16. DAVIDENKOV, S. 1939. Scapulo-peroneal-amyotrophy. Arch. Neurol. Psychol. 41: 649-701.
17. HARDING, A.E. & P.K. THOMAS. 1980. Distal and scapuloperoneal distribution of muscle involvement occurring within a family with Type I hereditary motor and sensory neuropathy. J. Neurol. 224: 17-23.
18. RONEN, G.M., N. LOWRY, J.H. WEDGE, et al. 1986. Hereditary motor sensory neuropathy type I presenting as scapuloperoneal atrophy (Davidenkov syndrome) electrophysiological and pathological studies. Can. J. Neurol. Sci. 13: 264-266.
19. 0 mutations in CMT disease. Neurology 47: 761-764.
20. 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451-460.
21. CHARNAS, L., B. TRAPP & J. GRIFFIN. 1988. Congenital absence of peripheral myelin. Abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology 38: 966-974.
22. BALLESTRINI, M.R., G. CAVALETTI, A. D'ANGELO, et al. 1991. Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity. Neuropediatrics 22: 65-70.
23. CHANCE P.F., N. MATSUNAMI, W. LENSCH, et al. 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.
24. KESSALI, M., R. ZEMMOURI, A. GUILBOT, et al. 1997. A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of CMT disease. Neurology 48: 867-873.
25. GAMBARDELLA, A., A. BULINO, M. MUGLIA, et al. 1998. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology 50: 799-801.
26. CHANCE, P.F., M.K. ALDERSON, K.A. LEPPIG, et al. 1993. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72: 143-151.
27. LUPSKI, J.R., P. CHANCE & C.A. GARCIA. 1993. Inherited primary peripheral neuropathies: molecular genetics and clinical inplications of CMT1A and HNPP. JAMA 270: 2326-2330.
28. BERGOFFEN, J., S. SCHERER, S. WANG, et al. 1993. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262; 2039-2042.
29. IONASESCU, V.V., CH. SEARBY, R. IONASESCU, et al. 1996. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47: 541-544.
30. GUTIERREZ, A., J.D. ENGLAND, C.A. GARCIA, et al. 1999. Unusual electrophysiologic findings in a family with CMTX. In preparation.
31. YOSHIOKA, R., P.J. DYCK & P.F. CHANCE. 1996. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 46: 569-571.
32. OTHMANE, K.B., L.T. MIDDLETON, L.J. LOPREST, et al. 1993. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome Ip and evidence of genetic heterogeneity. Genomics 17: 370-375.
33. DYCK, P.J., W.J. LITCHY, S. MINNERATH, T.D. BIRD, et al. 1994. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Neurology 35: 608-615.