Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
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.
Kamada
S
S
Dept. of Neurology, Akita University School of Medicine, 1-1-1, Hondo, Akita 010-8543, Japan.
Okawa
S
S
Imota
T
T
Sugawara
M
M
Toyoshima
I
I
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
D005819:Genetic Markers; D006360:Heat-Shock Proteins; C404403:SACS protein, human