Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation

Parkinsonism Relat Disord. 2022 Dec:105:7-8. doi: 10.1016/j.parkreldis.2022.10.022. Epub 2022 Oct 22.

Abstract

We describe a case of young onset generalized dystonia, harboring a previously unreported likely pathogenic THAP1 missense variant (c.109 G > A; p.Glu37Lys) that was inherited from her unaffected father. Moreover, we report a positive effect of deep brain stimulation, particularly on the cervical component of dystonia.

Keywords: Deep brain stimulation; Generalized dystonia; Incomplete penetrance; Pathogenic variant; THAP1.

Publication types

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

MeSH terms

  • Apoptosis Regulatory Proteins / genetics
  • DNA-Binding Proteins / genetics
  • Deep Brain Stimulation*
  • Dystonia* / genetics
  • Dystonia* / therapy
  • Dystonic Disorders* / genetics
  • Dystonic Disorders* / therapy
  • Female
  • Humans
  • Mutation
  • Nuclear Proteins / genetics
  • Penetrance

Substances

  • Nuclear Proteins
  • DNA-Binding Proteins
  • Apoptosis Regulatory Proteins
  • THAP1 protein, human