A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study
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Updated: Jul 4, 2026

Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Haruo Shimazaki1, Reza Vazifehmand, Mohhamad-Hassan Heidari
1Division of Neurology, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan.
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.
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