ATXN2 and Leber hereditary optic neuropathy: The signals for association on chromosome 12q24 were spread across a large 1 Mb LD block, including genes such as SH2B3, ATXN2 and PTPN11. The most significant SNP was located in ATXN2. Defects in the ATXN2 are the cause of spinocerebellar ataxia type 2 (SCA 2), which belongs to the autosomal cerebellar ataxias characterized by cerebellar ataxia, optic atrophy, ophthalmoplegia and dementia.