شماره ركورد
18360
عنوان به زبان ديگر
A Large Family with Spinocerebellar Ataxia Type 6 in Iran: A Clinical and Genetic Study
پديد آورندگان
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
از صفحه
459
تا صفحه
462
تعداد صفحه
4
چكيده لاتين
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.
شماره مدرك
1202328
لينک به اين مدرک