Linkage studies in Charcot-Marie-Tooth disease type 2

Evidence that CMT types 1 and 2 are distinct genetic entities

L. J. Loprest, Margaret 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 journalArticle

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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
Pages (from-to)597-601
Number of pages5
JournalNeurology
Volume42
Issue number3
StatePublished - Mar 1 1992
Externally publishedYes

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Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 1
Genetic Markers

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Linkage studies in Charcot-Marie-Tooth disease type 2 : Evidence that CMT types 1 and 2 are distinct genetic entities. / Loprest, L. J.; Pericak-Vance, Margaret A; Stajich, J.; Gaskell, P. C.; Lucas, A. M.; Lennon, F.; Yamaoka, L. H.; Roses, A. D.; Vance, Jeffery M.

In: Neurology, Vol. 42, No. 3, 01.03.1992, p. 597-601.

Research output: Contribution to journalArticle

Loprest, LJ, Pericak-Vance, MA, Stajich, J, Gaskell, PC, Lucas, AM, Lennon, F, Yamaoka, LH, Roses, AD & Vance, JM 1992, 'Linkage studies in Charcot-Marie-Tooth disease type 2: Evidence that CMT types 1 and 2 are distinct genetic entities', Neurology, vol. 42, no. 3, pp. 597-601.
Loprest, L. J. ; Pericak-Vance, Margaret A ; Stajich, J. ; Gaskell, P. C. ; Lucas, A. M. ; Lennon, F. ; Yamaoka, L. H. ; Roses, A. D. ; Vance, Jeffery M. / Linkage studies in Charcot-Marie-Tooth disease type 2 : Evidence that CMT types 1 and 2 are distinct genetic entities. In: Neurology. 1992 ; Vol. 42, No. 3. pp. 597-601.
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