Ataxia-oculomotor apraxia 2

An autosomal dominant condition caused by mutation(s) in the ATXN2 gene, encoding ataxin-2. Specifically, the mutation is an expanded CAG trinucleotide repeat in the gene. It is a progressive cerebellar ataxia associated supranuclear ophthalmoplegia, mild dementia and peripheral neuropathy.

Disease Alternative Name

olivopontocerebellar atrophy 2
spinocerebellar ataxia type 2
wadia-swami syndrome

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