genetics
Last reviewed 01/2018
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.