A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study.
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.
Shimazaki
Haruo
H
Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.
Vazifehmand
Reza
R
Heidari
Mohhamad-Hassan
MH
Khorram-Khorshid
Hamid-Reza
HR
Saber
Sassan
S
Hejazi
Shamsodin
S
Aghakhani-Moghadam
Fatemeh
F
Ouyang
Yi
Y
Honda
Junko
J
Nakano
Imaharu
I
Takiyama
Yoshihisa
Y
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics*