Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia.

Journal Article (Journal Article)

We examined 11 Caucasian pedigrees with autosomal dominant 'uncomplicated' familial spastic paraplegia (SPG) for linkage to the previously identified loci on chromosomes 2p, 14q and 15q. Chromosome 15q was excluded for all families. Five families showed evidence for linkage to chromosome 2p, one to chromosome 14q, and five families remained indeterminate. Homogeneity analysis of combined chromosome 2p and 14q data gave no evidence for a fourth as yet unidentified SPG locus. Recombination events reduced the chromosome 2p minimum candidate region (MCR) to a 3 cM interval between D2S352 and D2S367 and supported the previously reported 7 cM MCR for chromosome 14q. Age of onset (AO) was highly variable, indicating that subtypes of SPG are more appropriately defined on a genetic basis than by AO. Comparison of AO in parent-child pairs was suggestive of anticipation, with a median difference of 9.0 years (p<0.0001).

Full Text

Duke Authors

Cited Authors

  • Scott, WK; Gaskell, PC; Lennon, F; Wolpert, CM; Menold, MM; Aylsworth, AS; Warner, C; Farrell, CD; Boustany, RM; Albright, SG; Boyd, E; Kingston, HM; Cumming, WJ; Vance, JM; Pericak-Vance, MA

Published Date

  • September 1997

Published In

Volume / Issue

  • 1 / 2

Start / End Page

  • 95 - 102

PubMed ID

  • 10732810

International Standard Serial Number (ISSN)

  • 1364-6745

Digital Object Identifier (DOI)

  • 10.1007/s100480050014


  • eng

Conference Location

  • United States