Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia

Mov Disord. 2005 Oct;20(10):1358-61. doi: 10.1002/mds.20579.


Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disorder characterized by early-onset, spastic ataxia and peripheral neuropathy. It was originally described in an inbred population of Quebec and later in some other countries. We report a new missense SACS mutation (7848C>T) in a Spanish family whose phenotype is similar to that of the previously described ARSACS patients. 7848C>T is the first SACS mutation reported in Spain confirming worldwide distribution of the disease.

Publication types

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

MeSH terms

  • Adult
  • Ataxia / complications*
  • Ataxia / genetics*
  • Chromosome Disorders / genetics
  • Electromyography
  • Genes, Recessive / genetics
  • Heat-Shock Proteins / genetics*
  • Humans
  • Male
  • Muscle Spasticity / complications*
  • Mutation, Missense / genetics*
  • Point Mutation / genetics*
  • Spain


  • Heat-Shock Proteins
  • SACS protein, human