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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Spinocerebellar ataxia type 2 is inherited in an autosomal dominant manner.

The SCA2 gene is found on chromosome 12. Disruption of the function of the gene product, ataxin-2, is caused by a CAG trinucleotide expansion.

Patients with 36x(CAG) present with symptoms in the sixth decade while patients with 60x(CAG) may present in childhood.


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