Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Brain. 2019 Apr 1;142(4):e12. doi: 10.1093/brain/awz041.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Humans
  • Intellectual Disability
  • Muscle Spasticity
  • Mutation
  • Optic Atrophy*
  • Paraparesis, Spastic*
  • RNA Polymerase III / genetics
  • Spinocerebellar Ataxias*

Substances

  • POLR3A protein, human
  • RNA Polymerase III

Supplementary concepts

  • Spastic Ataxia