Preferred Label : POLR3A-Related Spastic Ataxia;
NCIt synonyms : Adolescent-Onset Spastic Ataxia; POLR3A-Related Late-Onset Spastic Ataxia;
NCIt 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.;
NCI Metathesaurus CUI : CL1928492;
Origin ID : C206117;
Has associated anatomic sites
- concept_is_in_subset
