title: Novel compound heterozygous mutations in sacsin-related ataxia.
abstract: High prevalence of a form of autosomal recessive spastic ataxia with early onset was originally described among French Canadians in the Charlevoix-Saguenay region, in northeastern Quebec. Since the responsible gene (SACS) was identified, mutations in the SACS gene have been described in Tunisia, Italy, Turkey, and Japan. The mutation sites found outside Quebec are different from the ones in Quebec. All patients outside Quebec, except one Italian patient, have been reported to have homozygous mutations. The authors report here identical twin sisters with novel compound heterozygous mutations (c.[2951_2952delAG]+[3922delT]) in the SACS gene.
authors.affiliation: Department of Neurology D4, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka 565-0871, Japan. yamamoto@neurol.med.osaka-u.ac.jp
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Kotaro
authors.initials: K
authors.lastname: Hiraoka
authors.forename: Mutsuko
authors.initials: M
authors.lastname: Araki
authors.forename: Seiichi
authors.initials: S
authors.lastname: Nagano
authors.forename: Haruo
authors.initials: H
authors.lastname: Shimazaki
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
authors.forename: Sabro
authors.initials: S
authors.lastname: Sakoda
mesh_terms: D000328:Adult; D000568:Amenorrhea; D001284:Atrophy / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D006360:Heat-Shock Proteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007564:Japan; D009128:Muscle Spasticity / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D014430:Twins, Monozygotic / Q000235:genetics
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human