Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

Nat Genet. 1993 Oct;5(2):163-7. doi: 10.1038/ng1093-163.


Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spasticity of the legs. Three families with autosomal dominant FSP of early onset were analysed in linkage studies using highly polymorphic microsatellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z = 10) was observed in one family. This chromosome 14q candidate region was entirely excluded in the two other families, providing evidence of genetic heterogeneity within a homogeneous clinical form of FSP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14*
  • DNA Primers
  • Female
  • Genes, Dominant*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Spastic Paraplegia, Hereditary / genetics*


  • DNA Primers