Abstract

Spinocerebellar ataxia 46 in a young female.

Sowmini, P. R. Yellaturi, Sivaroja Velayutham, S. Sakthi Krishnan, Mugundhan

Abstract


Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied oculomotor abnormalities. SCA 46 has recently been discovered to be associated with a mutation in phospholipase D 3 gene.


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