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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