Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

Journal Article (Journal Article)

The Charcot-Marie-Tooth (CMT) neuropathies are a group of disorders exhibiting neurophysical, pathological and genetic heterogeneity. CMT2 is a diagnostic subtype of this group of disorders characterized by variable expression and age-of-onset and normal or slightly diminished nerve conduction velocities. Previously, linkage and heterogeneity had been reported in CMT2 with linked families localizing to chromosome 1p (CMT2A). Recently a second CMT2 locus has been described on chromosome 7 in a single large CMT2 family (CMT2D). We have performed pedigree linkage analysis on 15 CMT2 families (N = 371 individuals, 106 affected family members) and have confirmed linkage to chromosome 7. Furthermore, using both admixture and multipoint linkage analysis we show conclusive evidence for additional heterogeneity within this clinical subtype with evidence of families that exclude linkage to both the CMT2D and CMT2A regions. In addition, unlike the previous report we found no obvious consistent clinical differences between the linked family types.

Full Text

Duke Authors

Cited Authors

  • Pericak-Vance, MA; Speer, MC; Lennon, F; West, SG; Menold, MM; Stajich, JM; Wolpert, CM; Slotterbeck, BD; Saito, M; Tim, RW; Rozear, MP; Middleton, LT; Tsuji, S; Vance, JM

Published Date

  • September 1997

Published In

Volume / Issue

  • 1 / 2

Start / End Page

  • 89 - 93

PubMed ID

  • 10732809

International Standard Serial Number (ISSN)

  • 1364-6745

Digital Object Identifier (DOI)

  • 10.1007/s100480050013


  • eng

Conference Location

  • United States