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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

23 Nov 2018

Abstract excerpt

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct from other SCAs for its association with dementia, psychiatric symptoms, and some patients presenting with chorea. For this reason, it is also called Huntington’s...

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PMID: 30532692
DOI: 10.3389/fncel.2018.00429

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