Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2.

Journal Article (Journal Article)

Familial spastic paraparesis (SPG) is a clinically and genetically heterogeneous group of disorders. At least three loci have been implicated in autosomal dominant pure SPG and mutations in either of two loci may cause the X-linked form. Although the penetrance is high for all forms by age 60, there is wide variation in clinical characteristics, including age of onset. Two-point and multi-point linkage analyses in nine families provided supportive evidence that the most common form of SPG is linked to chromosome 2 (SPG4). Haplotype analysis localized the critical region to a 6 cM interval between D2S392 and D2S367. By haplotype analysis, the disease in at least one family does not appear to be linked to any of the presently known SPG loci, suggesting that there is at least one additional SPG gene. Evaluation at ages of onset in 11 families gave suggestive evidence for anticipation with mean age of onset in parents (41.3 years) being older than mean age of onset in children (26.9 years; P < 0.005).

Full Text

Duke Authors

Cited Authors

  • Raskind, WH; Pericak-Vance, MA; Lennon, F; Wolff, J; Lipe, HP; Bird, TD

Published Date

  • February 21, 1997

Published In

Volume / Issue

  • 74 / 1

Start / End Page

  • 26 - 36

PubMed ID

  • 9034002

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/(sici)1096-8628(19970221)74:1<26::aid-ajmg7>3.0.co;2-t


  • eng

Conference Location

  • United States