A New Missense Mutation of SPTBN2 with Spinocerebellar Ataxia Type5: A Case Report
1.1. Background: Spinocerebellar ataxia type 5 (SCA5), domi nant spinocerebellar ataxia caused by mutations in the SPTBN2 gene, SCA5 is clinically described as a slowly progressive cere bellar ataxia with little involvement of the brainstem or spinocere bellar tract or brain, occurring mainly in adulthood.