SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

Neurology. 2006 Jan 10;66(1):112-4. doi: 10.1212/01.wnl.0000191390.20564.8e.

Abstract

Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years (31.8%). Later onset was not observed. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Brain / pathology
  • Brain / physiopathology
  • DNA Mutational Analysis
  • Family Health
  • GTP Phosphohydrolases / genetics*
  • GTP-Binding Proteins
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Membrane Proteins
  • Middle Aged
  • Mutation / genetics*
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Phenotype
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / physiopathology
  • Wallerian Degeneration / diagnosis
  • Wallerian Degeneration / genetics

Substances

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