Author/Authors :
Haruo Shimazaki، نويسنده , , Reza Vazifehmand، نويسنده , , Mohhamad-Hassan Heidari، نويسنده , , Hamid-Reza Khorram-Khorshid، نويسنده , , Sassan Saber، نويسنده , , Shamsodin Hejazi، نويسنده , , Fatemeh Aghakhani-Moghadam، نويسنده , , Yi Ouyang، نويسنده , , Junko Honda، نويسنده , , Imaharu Nakano، نويسنده , , Yoshihisa Takiyama، نويسنده ,
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.
Keywords :
CAG repeats , Iran , Peripheral neuropathy , SCA6 , Spasticity
