A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

Am J Hum Genet. 2000 Feb;66(2):728-32. doi: 10.1086/302783.


Genetic loci for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) have been mapped to chromosomes 2p, 8q, 12q, 14q, and 15q. We undertook a genomewide linkage screen of a large family with ADPHSP, for which linkage at all previously identified ADPHSP loci was excluded. Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus (which we have termed "SPG12") to this region. Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 19 / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Heterogeneity
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats / genetics
  • Paraplegia / epidemiology
  • Paraplegia / genetics*
  • Pedigree
  • Penetrance