POLR3A-Related Spastic Ataxia

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the POLR3A gene, encoding DNA-directed RNA polymerase III subunit RPC1. It is characterized by cerebellar ataxia and/or lower limb spasticity.

**Synonyms:** - Adolescent-Onset Spastic Ataxia - POLR3A-Related Late-Onset Spastic Ataxia