The autosomal dominant form of "pure" familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree.

Published

Journal Article

We studied 33 affected members in a family with autosomal dominant "pure" familial spastic paraplegia (FSP). Symptoms began in the fourth or fifth decade, expression varied, and progression was slow. We excluded close linkage to the HLA locus (distal end of short arm of chromosome 6); C8 alpha-gamma locus (proximal end of short arm of chromosome 1); PGM1 (middle region of short arm of chromosome 1); and P blood group (location unknown). Although there was no statistically significant linkage between FSP and any of the other markers, lod scores were positive with loci for GC (vitamin D binding globulin) located on chromosome 4 (4q11-q13) and Rh located on chromosome 1 (1p34-p36).

Full Text

Duke Authors

Cited Authors

  • Boustany, RM; Fleischnick, E; Alper, CA; Marazita, ML; Spence, MA; Martin, JB; Kolodny, EH

Published Date

  • June 1, 1987

Published In

Volume / Issue

  • 37 / 6

Start / End Page

  • 910 - 915

PubMed ID

  • 3587641

Pubmed Central ID

  • 3587641

International Standard Serial Number (ISSN)

  • 0028-3878

Digital Object Identifier (DOI)

  • 10.1212/wnl.37.6.910

Language

  • eng

Conference Location

  • United States