A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

Am J Hum Genet. 1998 Jul;63(1):135-9. doi: 10.1086/301930.


Hereditary spastic paraplegia is a genetically and phenotypically heterogeneous disorder. Both pure and complicated forms have been described, with autosomal dominant, autosomal recessive, and X-linked inheritance. Various loci (SPG1-SPG6) associated with this disorder have been mapped. Here, we report linkage analysis of a large consanguineous family affected with autosomal recessive spastic paraplegia with age at onset of 25-42 years. Linkage analysis of this family excluded all previously described spastic paraplegia loci. A genomewide linkage analysis showed evidence of linkage to chromosome 16q24.3, with markers D16S413 (maximum LOD score 3.37 at recombination fraction [theta] of .00) and D16S303 (maximum LOD score 3.74 at straight theta=.00). Multipoint analysis localized the disease gene in the most telomeric region, with a LOD score of 4.2. These data indicate the presence of a new locus linked to pure recessive spastic paraplegia, on chromosome 16q24.3, within a candidate region of 6 cM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16 / genetics*
  • Genes, Recessive / genetics
  • Genetic Diseases, Inborn / genetics
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics
  • Humans
  • Lod Score
  • Middle Aged
  • Paraplegia / genetics*
  • Pedigree


  • Genetic Markers