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NEUROLOGY 1992;42:597
© 1992 American Academy of Neurology

Linkage studies in Charcot-Marie-Tooth disease type 2

Evidence that CMT types 1 and 2 are distinct genetic entities

L. J. Loprest, MD, M. A. Pericak-Vance, PhD, J. Stajich, PA, P. C. Gaskell, PA, A. M. Lucas, BS, F. Lennon, BS, L. H. Yamaoka, PhD, A. D. Roses, MD and J. M. Vance, MD, PhD

Department of Medicine, Division of Neurology, Duke University Medical Center, Durham, NC.

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 1A). 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 1B. These data indicate that CMT type 2 is genetically distinct from CMT type 1.

Address correspondence and reprint requests to Dr. Jeffery M. Vance, Box 2900, Duke University Medical Center, Durham, NC 27710.

Supported in part by a Muscular Dystrophy Association grant and NINCDS grants #NS01289 and #NS26630.

Received June 5, 1991. Accepted for publication in final form August 1, 1991.




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