title: A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
authors.forename: S
authors.initials: S
authors.lastname: Okawa
authors.forename: M
authors.initials: M
authors.lastname: Sugawara
authors.forename: S
authors.initials: S
authors.lastname: Watanabe
authors.forename: T
authors.initials: T
authors.lastname: Imota
authors.forename: I
authors.initials: I
authors.lastname: Toyoshima
mesh_terms: D000328:Adult; D001284:Atrophy; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations; D018389:Codon, Nonsense; D005260:Female; D005808:Genes, Recessive; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D006360:Heat-Shock Proteins; C404403:SACS protein, human