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Spinocerebellar ataxia 46 in a young female
P R Sowmini1, Sivaroja Yellaturi1, S Sakthi Velayutham1
1Department of Neurology, Stanley Medical College, Chennai, Tamil Nadu, India.
Journal of Neurosciences in Rural Practice
|December 7, 2023
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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