A novel mutation in SACS gene in a family from southern Italy

Neurology. 2004 Jan 13;62(1):100-2. doi: 10.1212/wnl.62.1.100.

Abstract

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS.

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics*
  • Consanguinity
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Testing
  • Haplotypes
  • Hearing Loss / complications
  • Hearing Loss / diagnosis
  • Heat-Shock Proteins / genetics*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / diagnosis
  • Italy
  • Muscle Spasticity / complications
  • Muscle Spasticity / diagnosis
  • Mutation / genetics*
  • Nerve Fibers, Myelinated / pathology
  • Neural Conduction
  • Phenotype
  • Siblings
  • Sural Nerve / pathology

Substances

  • Heat-Shock Proteins
  • SACS protein, human

Associated data

  • OMIM/270550