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Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype
Author(s) -
Hoogendijk Jessica E.,
de Visser Marianne,
Bolhuis Pieter A.,
Hart Augustinus A. M.,
de Visser Bram W. Ongerboer
Publication year - 1994
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/mus.880170112
Subject(s) - sensory neuropathy , gene duplication , hereditary motor and sensory neuropathy , medicine , sensory system , genetics , neuroscience , biology , gene , disease
Forty‐four affected individuals, aged 8–68 years (mean 34 years), from six families with hereditary motor and sensory neuropathy type I (HMSN) I, Charcot–Marie–Tooth disease type (1) were investigated to determine the clinical and electroneurographical characteristics of the HMSN I subtype that is defined by the presence of a DNA duplication on chromosome 17p. Motor nerve conduction velocity (MNCV) and, to a lesser extent, compound muscle action potential amplitude, were inversely related to clinical severity. Neither clinical severity nor MNCV were significantly related to age. These results suggest that the primary pathological process is not, or only slightly active after childhood. © 1994 John Wiley & Sons, Inc.