A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

Am J Hum Genet. 1999 Sep;65(3):757-63. doi: 10.1086/302555.


Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is clinically characterized by slowly progressive lower-limb spasticity. The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q. We have performed a genomewide linkage screen on a large family with ADPHSP, in which linkage to all four previously known loci was excluded. Analysis of markers on chromosome 12q gave a peak pairwise LOD score of 3.61 at D12S1691, allowing us to assign a new locus for ADPHSP (a locus that we have designated "SPG10") to this region. Haplotype construction and analysis of recombination events narrowed the SPG10 locus to a 9.2-cM region between markers D12S368 and D12S83. In addition, our data strongly suggest that there are at least six ADPHSP loci, since we describe a further family in which linkage to all five known ADPHSP loci has been excluded.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Child
  • Child, Preschool
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 12 / genetics*
  • Chromosomes, Human, Pair 2 / genetics
  • Female
  • Genes, Dominant*
  • Genetic Heterogeneity*
  • Genetic Markers
  • Haplotypes
  • Humans
  • Lod Score
  • Male
  • Middle Aged
  • Paraplegia / genetics*
  • Paraplegia / physiopathology
  • Pedigree
  • Phenotype
  • Recombination, Genetic


  • Genetic Markers