title: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder first described among French Canadians in Quebec. To date, 24 mutations have been reported in the SACS gene of ARSACS patients. The authors report a clinical and genetic analysis of a Japanese family with ARSACS with novel compound heterozygous mutations in the SACS gene (N161fsX175, L802P). The phenotype is similar to that of previously reported ARSACS patients.
authors.affiliation: Dept. of Neurology, Akita University School of Medicine, 1-1-1, Hondo, Akita 010-8543, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Kamada
authors.forename: S
authors.initials: S
authors.lastname: Okawa
authors.forename: T
authors.initials: T
authors.lastname: Imota
authors.forename: M
authors.initials: M
authors.lastname: Sugawara
authors.forename: I
authors.initials: I
authors.lastname: Toyoshima
mesh_terms: D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001483:Base Sequence / Q000235:genetics; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D025063:Chromosome Disorders / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006360:Heat-Shock Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology
chemical_list: D005819:Genetic Markers; D006360:Heat-Shock Proteins; C404403:SACS protein, human