Characterization of the phenotype of spinocerebellar ataxia type 48

Takeaway

  • In a large cohort of individuals with spinocerebellar ataxia (SCA), SCA48 (an autosomal dominant ataxia variant) was infrequent overall but more common in familial SCA cases; SCA48 cases had STUB1 mutations and often showed movement disorders and other clinical manifestations.

Why this matters

    This study more fully describes the SCA48 phenotype and the similarities to SCAR16 (an autosomal recessive variant), including biallelic variants in STUB1, demonstrating overlap in characteristics among dominant and recessive STUB1 mutations.