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Spinocerebellar ataxias (SCAs) are a large group of genetically and phenotypically heterogeneous autosomal dominant, neurodegenerative disorders manifesting with progressive cerebellar ataxia usually with adult-onset.1 Currently, 48 subtypes of SCAs are described; of which, for 40 SCAs, the genes have been identified. The most frequent types are related to coding repeat expansions including SCA1, SCA2, SCA3, SCA6, and SCA7. However, for unusual SCA types, whole exome sequencing (WES) is necessary to identify the genetic cause. Late-onset cerebellar ataxia can be caused by several genetic mutations, but a large percentage of patients remain undiagnosed after WES.

Does SCA45 Cause Very Late-Onset Pure Cerebellar Ataxia?