A phenotype without spasticity in sacsin-related ataxia

Neurology. 2005 Jun 28;64(12):2129-31. doi: 10.1212/01.WNL.0000166031.91514.B3.

Abstract

The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.

Publication types

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

MeSH terms

  • Adult
  • Afferent Pathways / pathology
  • Afferent Pathways / physiopathology
  • Age of Onset
  • Amino Acid Substitution / genetics
  • Ataxia / genetics
  • Ataxia / physiopathology*
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Cerebellar Diseases / physiopathology*
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Chromosome Disorders / genetics
  • Chromosome Disorders / physiopathology*
  • DNA Mutational Analysis
  • Genes, Recessive / genetics*
  • Genetic Testing
  • Heat-Shock Proteins / genetics*
  • Humans
  • Japan
  • Male
  • Muscle Spasticity / genetics
  • Muscle Spasticity / physiopathology
  • Mutation, Missense / genetics*
  • Peripheral Nerves / pathology
  • Peripheral Nerves / physiopathology
  • Phenotype

Substances

  • Heat-Shock Proteins
  • SACS protein, human