Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population

Neuromuscular Disorders

Volumn 23, Issue 8, 2013, Pages 647-651

  Gess, Burkhard ^a   Schirmacher, Anja ^a   Boentert, Matthias ^a   Young, Peter ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Charcot Marie Tooth; Genetics; Hereditary neuropathy; Neuromuscular; Peripheral neuropathy

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

ARTICLE; BRAIN ELECTROPHYSIOLOGY; DNA DETERMINATION; GENE DUPLICATION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC SCREENING; GJB1 GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MEDICAL HISTORY; MOLECULAR PATHOLOGY; MPZ GENE; MUTATOR GENE; NERVE CONDUCTION; OUTPATIENT CARE; PATIENT ASSESSMENT; PHENOTYPE; PMP22 GENE; PRIORITY JOURNAL;

CHARCOT-MARIE-TOOTH; GENETICS; HEREDITARY NEUROPATHY; NEUROMUSCULAR; PERIPHERAL NEUROPATHY;

CHARCOT-MARIE-TOOTH DISEASE; COHORT STUDIES; CONNEXINS; ELECTRIC STIMULATION; FEMALE; GENE FREQUENCY; GENETIC TESTING; GERMANY; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MITOCHONDRIAL PROTEINS; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; NEURAL CONDUCTION; RETROSPECTIVE STUDIES;

EID: 84880962195     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.05.005     Document Type: Article

References (16)

1. Dyck P.J., Chance P.F., Lebo R., Carney A.J. Hereditary motor and sensory neuropathies. Peripheral neuropathy 1993, 1116-1117. WB Saunders, Philadelphia. P.J. Dyck (Ed.).
2. Bird T.D. Charcot-Marie-Tooth hereditary neuropathy overview. Ggenereviews™ [Internet] 2012, University of Washington, Seattle. R.A. Pagon, T.D. Bird, C.R. Dolan (Eds.).
3. Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259-280.
4. Murphy S.M., Laura M., Fawcett K., et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 2012, 83:706-710.
5. Saporta A.S., Sottile S.L., Miller L.J., Feely S.M., Siskind C.E., Shy M.E. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011, 69:22-33.
6. Latour P., Gonnaud P.M., Ollagnon E., et al. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst 2006, 11:148-155.
7. Braathen G.J., Sand J.C., Lobato A., Hoyer H., Russell M.B. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol 2012, 18:39-48.
8. Chance P.F., Alderson M.K., Leppig K.A., et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993, 72:143-151.
9. Andersson P.B., Yuen E., Parko K., So Y.T. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000, 54:40-44.
10. Kaback M.M., Howell R.R. Infantile metachromatic leukodystrophy. N Engl J Med 1970, 282:1336-1340.
11. Engert J.C., Berube P., Mercier J., et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000, 24:120-125.
12. Pyle A., Griffin H., Yu-Wai-Man P., et al. Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. Arch Neurol 2012, 69:1351-1354.
13. Gess B., Schirmacher A., Young P. Genetics of neuropathies. Der Nervenarzt 2013, 84:157-165.
14. Pareyson D., Scaioli V., Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8:3-22.
15. Reilly M.M. Sorting out the inherited neuropathies. Pract Neurol 2007, 7:93-105.
16. Zuchner S. Peripheral neuropathies: whole genome sequencing identifies causal variants in CMT. Nat Rev 2010, 6:424-425.