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ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia

13 Jan 2016

Abstract excerpt

BACKGROUND: Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and even within the same SCA subtype. A study of a four-generation family with autosomal dominant (AD) non-progressive SCA with mild symptoms was conducted. The genotyping of this family revealed no frequent pathogenic mutations. So the objective of...

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PMID: 26770814
DOI: 10.1186/s40673-016-0040-8

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