title: SYNE1 mutations in autosomal recessive cerebellar ataxia.
abstract: OBJECTIVE
  Autosomal recessive cerebellar ataxia type I, also known as recessive ataxia of Beauce, is a slowly progressive ataxia that leads to moderate disability with gait ataxia, dysarthria, dysmetria, mild oculomotor abnormalities, and diffuse cerebellar atrophy on brain imaging. Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene, located on chromosome 6p25, were first reported in patients who originated from a region known as "Beauce" in the province of Quebec, Canada.
  
  
  OBJECTIVE
  To better evaluate the prevalence of SYNE1 mutations in individuals with mild pure cerebellar ataxia and cerebellar atrophy, we screened the gene in additional French-Canadian (FC) families and individuals from other populations.
  
  
  METHODS
  Study participants were referred by their treating physician on the basis of core features of autosomal recessive cerebellar ataxia type I. After excluding individuals with known SYNE1 mutations, our cohort was composed mainly of 19 FCs and 21 individuals from other ethnic backgrounds.
  
  
  METHODS
  Extraction of DNA from blood samples and complete resequencing of the SYNE1 gene.
  
  
  METHODS
  The involvement of SYNE1 mutations in individuals with ataxia worldwide by resequencing the SYNE1 gene.
  
  
  RESULTS
  Two novel truncating mutations were found among the FC participants, and 2 other novel mutations were found in a patient from France and a patient from Brazil (1 mutation each).
  
  
  CONCLUSIONS
  This is the second report, to our knowledge, of SYNE1 gene mutations in a population other than FCs. These data suggest that mutations in SYNE1 should be investigated in families with cerebellar ataxia who live outside the FC region.
authors: Anne
authors: A
authors: Noreau
authors: Cynthia V
authors: CV
authors: Bourassa
authors: Anna
authors: A
authors: Szuto
authors: Annie
authors: A
authors: Levert
authors: Sylvia
authors: S
authors: Dobrzeniecka
authors: Julie
authors: J
authors: Gauthier
authors: Sylvie
authors: S
authors: Forlani
authors: Alexandra
authors: A
authors: Durr
authors: Mathieu
authors: M
authors: Anheim
authors: Giovanni
authors: G
authors: Stevanin
authors: Alexis
authors: A
authors: Brice
authors: Jean-Pierre
authors: JP
authors: Bouchard
authors: Patrick A
authors: PA
authors: Dion
authors: Nicolas
authors: N
authors: Dupré
authors: Guy A
authors: GA
authors: Rouleau
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000235:genetics; D015331:Cohort Studies; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C415465:SYNE1 protein, human