A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia

Neurology. 2003 Jul 22;61(2):235-8. doi: 10.1212/01.wnl.0000069920.42968.8d.

Abstract

The authors performed a clinical and genetic study of a large consanguineous English family with uncomplicated autosomal recessive hereditary spastic paraplegia (ARHSP). Linkage to the previously described SPG5A locus was established with maximum multipoint lod score of 4.84. The locus was refined to a 23.6 cM interval between markers D8S1833 and D8S285. No evidence of oxidative phosphorylation defects was found in muscle biopsies from two affected individuals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • Child
  • Chromosomes, Human, Pair 8 / genetics*
  • Consanguinity
  • Electron Transport Complex IV / analysis
  • England
  • Female
  • Genes, Recessive*
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / pathology
  • Pedigree
  • Phenotype
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology
  • Succinate Dehydrogenase / analysis

Substances

  • Succinate Dehydrogenase
  • Electron Transport Complex IV