18360

A Large Family with Spinocerebellar Ataxia Type 6 in Iran: A Clinical and Genetic Study

Shimazaki Haruo نويسنده , Vazifehmand Reza نويسنده , Heidari Mohhamad-Hassan نويسنده , KHORRAM KHORSHID HAMID REZA نويسنده , Saber Sassan نويسنده , Hejazi Shamsodin نويسنده , Aghakhani-Moghadam Fatemeh نويسنده , Ouyang Yi نويسنده , Honda Junko نويسنده , Nakano Imaharu نويسنده , Takiyama Yoshihisa نويسنده

459

462

4

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.

1202328