Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey

Neurogenetics. 2004 Sep;5(3):165-70. doi: 10.1007/s10048-004-0179-y. Epub 2004 May 20.


We studied five families with pediatric-onset recessive spastic ataxia from Turkey. The clinical characteristics and linkage studies are compatible with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). SACS mutations are responsible for ARSACS in Québec families. In four of the five families tested we detected new disease-causing mutations using automated sequencing of SACS. Our study raises to 12 the number of SACS mutations detected in ARSACS patients with origins around the Mediterranean basin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / genetics*
  • Child
  • Chromosomes, Human, Pair 13
  • Family Health
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Heat-Shock Proteins / genetics*
  • Heterozygote
  • Humans
  • Male
  • Models, Genetic
  • Mutation*
  • Sequence Analysis, DNA
  • Turkey


  • Genetic Markers
  • Heat-Shock Proteins
  • SACS protein, human