The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy

J Neurol. 2005 Aug;252(8):901-3. doi: 10.1007/s00415-005-0768-1. Epub 2005 Mar 8.

Abstract

Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Arginine / genetics*
  • Child
  • DNA Mutational Analysis / methods
  • Family Health
  • Female
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Humans
  • Male
  • Membrane Proteins
  • Mutation*
  • Paraplegia / complications
  • Paraplegia / genetics*
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / genetics*
  • Tryptophan / genetics*

Substances

  • Membrane Proteins
  • Tryptophan
  • Arginine
  • ATL1 protein, human
  • GTP Phosphohydrolases
  • GTP-Binding Proteins