Novel heterozygous STUB1 mutations in autosomal dominant cerebellar ataxia


  • Autosomal heterozygous STUB1 missense mutations are associated with cerebellar ataxia characterized by early-onset cognitive abnormalities and late-stage ataxia.

Why this matters

  • STUB1 is known to be associated with an autosomal recessive ataxia.

  • This study confirms that mutations in STUB1 can also cause autosomal dominant ataxia which is important when providing genetic counselling for affected individuals.