Dominant and recessive inheritance patterns in STUB1-ataxia


  • Heterozygous variants in STUB1 can cause autosomal dominant hereditary cerebellar ataxia and cognitive decline.

Why this matters

    Although previous studies have identified heterozygous STUB1 mutations as a cause of familial ataxia with cognitive affective syndrome, they have lacked neuropathological evaluations. These findings could help clarify the extensive variability of hereditary ataxias.