Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Hum Mol Genet. 1994 Oct;3(10):1867-71. doi: 10.1093/hmg/3.10.1867.

Abstract

'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs. Dominantly inherited SPG is known to be clinically heterogenous and has been classified into late-onset and early-onset types, based on the age of onset of symptoms. We tested five autosomal dominant SPG families for genetic linkage and established linkage to chromogene 2p markers (Z(theta) = 3.65) with evidence of genetic locus heterogeneity. Three late-onset SPG families and one early-onset SPG family had high posterior probability of linkage (P > 0.94) to chromosome 2p, while the fifth family (a very early-onset family) was not linked to chromosome 2 and showed high probability of linkage to chromosome 14q. These data provide a basis for a classification of SPG according to chromosome location rather than age of onset of symptoms.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, Pair 2*
  • Female
  • Genes, Dominant*
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Paraplegia / genetics*
  • Pedigree
  • Probability
  • Repetitive Sequences, Nucleic Acid

Substances

  • Genetic Markers