Abstract
Autosomal dominant spinocerebellar ataxias (AD SCA) can present with a wide variety of non-cerebellar symptoms, including movement disorders. In fact, movement disorders are common in many different subtypes of SCA, and they may be present, dominant, or even an isolated feature of the disease. In this article we describe 9 clinical cases of spinocerebellar ataxia type 1, the clinical picture of which includes cervical dystonia with laterocollis. In all cases, a mutation in the ATXN1 gene was detected. Keywords: cerebellar ataxia; movement disorders; spinocerebellar ataxia; cervical dystonia.
Published Version
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