Identification of a SACS gene missense mutation in ARSACS

Neurology. 2004 Jan 13;62(1):107-9. doi: 10.1212/01.wnl.0000099371.14478.73.

Abstract

The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxia / complications
  • Ataxia / diagnosis
  • Ataxia / genetics*
  • Cerebellum / pathology
  • DNA Mutational Analysis
  • Dysarthria / diagnosis
  • Dysarthria / etiology
  • Dysarthria / genetics
  • Female
  • Gait Disorders, Neurologic / diagnosis
  • Gait Disorders, Neurologic / etiology
  • Gait Disorders, Neurologic / genetics
  • Genes, Recessive
  • Heat-Shock Proteins / genetics*
  • Homozygote
  • Humans
  • Japan
  • Magnetic Resonance Imaging
  • Male
  • Muscle Spasticity / complications
  • Muscle Spasticity / diagnosis
  • Muscle Spasticity / genetics*
  • Mutation, Missense*
  • Nerve Fibers, Myelinated / pathology
  • Neural Conduction
  • Neuropsychological Tests
  • Retina / pathology
  • Siblings
  • Sural Nerve / pathology
  • Sural Nerve / physiopathology

Substances

  • Heat-Shock Proteins
  • SACS protein, human