Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

D. A. Kaku, G. J. Parry, R. Malamut, J. R. Lupski, C. A. Garcia

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113 Scopus citations

Abstract

We evaluated motor conduction velocities in a large group of patients and their unaffected kin from five families in which a segmental duplication of chromosome 17p has shown complete linkage to Charcot-Marie-Tooth disease type 1 (CMT1A). Slowing of conduction was completely concordant with the presence of the segmental duplication; two clinically normal patients had slowed conduction. Nonetheless, among the patients with the CMT1A duplication, conduction velocities varied widely, by >30 m/sec overall, by >20 m/sec within families, and often by more than 10 m/sec between siblings and between parents and children. One patient was homozygous for the chromosome 17p duplication and had the slowest conduction velocity observed. Conduction slowing was not age-dependent and was present early in childhood. Our findings demonstrate complete penetrance at an early age of the electrophysiologic phenotype associated with the chromosome 17p duplication and confirm the reliability of nerve conduction studies in establishing the affection status in CMT1A. The great variation in conduction velocity among CMT1A patients emphasizes the influence of factors apart from the shared genetic mutation on phenotypic expression.

Original languageEnglish (US)
Pages (from-to)1806-1808
Number of pages3
JournalNeurology
Volume43
Issue number9
StatePublished - Sep 1993
Externally publishedYes

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