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Unusual electrophysiological findings in X‐linked dominant Charcot‐Marie‐Tooth disease
Author(s) -
Gutierrez Amparo,
England John D.,
Sumner Austin J.,
Ferer Scott,
Warner Laura E.,
Lupski James R.,
Garcia Carlos A.
Publication year - 2000
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/(sici)1097-4598(200002)23:2<182::aid-mus6>3.0.co;2-w
Subject(s) - proband , connexin 32 , polyneuropathy , sural nerve , electrophysiology , nerve conduction velocity , tooth disease , medicine , degenerative disease , nerve biopsy , pathology , disease , peripheral neuropathy , biology , mutation , genetics , endocrinology , gene , gap junction , connexin , intracellular , diabetes mellitus
X‐linked Charcot‐Marie‐Tooth disease (CMTX) is the second most common form of Charcot‐Marie‐Tooth disease. Variable histopathological and nerve conduction velocity (NCV) results have suggested either a primary demyelinating or axonal polyneuropathy. We identified five individuals across three generations in a family with CMTX associated with a mutation in the gene coding for connexin 32. All individuals were studied by clinical neurological examination, DNA analysis, and nerve conduction studies. The proband (1174/KD) also underwent a sural nerve biopsy. As expected, all the affected males were more clinically affected than the females. All affected males and obligate female carriers exhibited some electrophysiological characteristics of demyelination. However, striking heterogeneity of nerve conduction velocities was seen. This family shows that CMTX is a heterogeneous and distinctly nonuniform demyelinating polyneuropathy, the severity of which varies with sex and age. Such electrophysiological variability is unique among hereditary neuropathies. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 182–188, 2000.