Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon

Neurology. 2006 Apr 11;66(7):1103-4. doi: 10.1212/01.wnl.0000204300.94261.ea.


The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clinically compatible with ARSACS, even without any mutation in the gigantic exon.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Ataxia / genetics*
  • DNA / blood
  • DNA / genetics
  • DNA / isolation & purification
  • Dysarthria / genetics
  • Exons
  • Female
  • Genotype
  • Heat-Shock Proteins / genetics*
  • Humans


  • Heat-Shock Proteins
  • SACS protein, human
  • DNA