Moreover, the CSMD1 gene expression profile across clinical subgroups (ER, HER2, and LN status, as well as histological grade) and molecular PAM50 subtypes (Basal, HER2, Luminal A, Luminal B and normal-like) of SCAN-B patients was investigated. The gene discussed is ESR1; the disease is spinocerebellar ataxia, autosomal recessive, with axonal neuropathy.