Title of article
A Large Family with Spinocerebellar Ataxia Type 6 in Iran: A Clinical and Genetic Study
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 ,
Issue Information
فصلنامه با شماره پیاپی سال 2008
Pages
4
From page
459
To page
462
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
Journal title
Archives of Iranian Medicine
Serial Year
2008
Journal title
Archives of Iranian Medicine
Record number
662980
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