A new mutation in the GNAL gene in familial dystonia presenting with mental symptoms

Neurol Sci. 2022 Jul;43(7):4547-4549. doi: 10.1007/s10072-022-06060-5. Epub 2022 Apr 8.

Abstract

GNAL mutations (DYT25) have lately been identified as the firstly proven cause of focal adult-onset dystonia. We report here a new mutation in the GNAL gene in two siblings with dystonia. The new mutation is called NM 001,142,339:c.97C > T. Our research emphasizes the possible effects of new mutation on disease risk and the significance of genetic tests for GNAL mutations in confirming the molecular diagnosis.

Keywords: Dystonia; GNAL; Mental symptoms; Mutation.

MeSH terms

  • Adult
  • Dystonia* / genetics
  • Dystonic Disorders* / genetics
  • GTP-Binding Protein alpha Subunits / genetics
  • Genetic Testing
  • Humans
  • Mutation / genetics

Substances

  • GTP-Binding Protein alpha Subunits