Linkage studies in charcot-marie-tooth disease type 2: Evidence that CMT types 1 and 2 are distinct genetic entities

L. J. Loprest, M. A. Pericak-Vance, J. Stajich, P. C. Gaskell, A. M. Lucas, F. Lennon, L. H. Yamaoka, A. D. Roses, Jeffery M. Vance

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy, is a progressive sensorimotor neuropathy divided into types 1 and 2 based upon electrophysiologic and neuropathologic differences. The more common autosomal dominant form of CMT type 1 (hereditary motor and sensory neuropathy type I) is genetically heterogeneous, with genes located on chromosomes 1 (type 1B) or 17 (type IA). However, no locus for CMT type 2 is known. We have performed linkage studies on three large multigenerational CMT type 2 families using probes from chromosome 1 and chromosome 17, which span their respective linkage regions. Multipoint analysis of the chromosome 17 markers excluded linkage over an area of 45 cM-15 cM proximal and 30 cM distal to the region containing CMT type 1A. Multipoint analysis of the chromosome 1 markers exclude linkage 15 cM proximal and 20 cM distal to FC-gamma-RII in the region of CMT IB. These data indicate that CMT type 2 is genetically distinct from CMT type 1.

Original languageEnglish (US)
Pages (from-to)597-601
Number of pages5
JournalNeurology
Volume42
Issue number3
DOIs
StatePublished - Mar 1992
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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