Identification of a new familial spinocerebellar ataxia gene locus

Takeaway

  • A previously undescribed autosomal dominant spinocerebellar ataxia (SCA) genetic locus in the STUB1 gene, associated with early onset cerebellar cognitive-affective syndrome (CCAS), was identified.

Why this matters

  • Recessive SCA-associated mutations have been previously identified in STUB1, so this dominant mutation suggests a new locus with a separate pathogenic mechanism and highlights the important role of STUB1 in cognitive cerebellar function.