title: Identification of a SACS gene missense mutation in ARSACS.
abstract: The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).
authors.affiliation: Department of Neurology, Jichi Medical School, Tochigi, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: Y
authors.initials: Y
authors.lastname: Takiyama
authors.forename: K
authors.initials: K
authors.lastname: Sakoe
authors.forename: K
authors.initials: K
authors.lastname: Mori
authors.forename: M
authors.initials: M
authors.lastname: Namekawa
authors.forename: H
authors.initials: H
authors.lastname: Shimazaki
authors.forename: I
authors.initials: I
authors.lastname: Nakano
authors.forename: M
authors.initials: M
authors.lastname: Nishizawa
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D004252:DNA Mutational Analysis; D004401:Dysarthria / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D005260:Female; D020233:Gait Disorders, Neurologic / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D005808:Genes, Recessive; D006360:Heat-Shock Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D009128:Muscle Spasticity / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009431:Neural Conduction; D009483:Neuropsychological Tests; D012160:Retina / Q000473:pathology; D035781:Siblings; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human