title: A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study.
abstract: The authors describe a large Iranian family with autosomal dominant cerebellar ataxia, which included 14 patients in four generations. We examined seven patients who had expanded CAG repeats in the CACNA1A gene with repeat instability (24 and 25 repeats). Although all patients showed cerebellar ataxia, each patient exhibited peripheral neuropathy or spasticity indicating intrafamilial phenotypic variability.
authors.affiliation: Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.
authors.forename: Haruo
authors.initials: H
authors.lastname: Shimazaki
authors.forename: Reza
authors.initials: R
authors.lastname: Vazifehmand
authors.forename: Mohhamad-Hassan
authors.initials: MH
authors.lastname: Heidari
authors.forename: Hamid-Reza
authors.initials: HR
authors.lastname: Khorram-Khorshid
authors.forename: Sassan
authors.initials: S
authors.lastname: Saber
authors.forename: Shamsodin
authors.initials: S
authors.lastname: Hejazi
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Aghakhani-Moghadam
authors.forename: Yi
authors.initials: Y
authors.lastname: Ouyang
authors.forename: Junko
authors.initials: J
authors.lastname: Honda
authors.forename: Imaharu
authors.initials: I
authors.lastname: Nakano
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Takiyama
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics*