Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation

Tremor Other Hyperkinet Mov (N Y). 2023 Aug 22:13:23. doi: 10.5334/tohm.774. eCollection 2023.

Abstract

A 21-year-old woman of south Asian origin presented with cervical dystonia which had progressed over the previous three years. Her symptoms started as writer's cramp since the age of seven years. She did not respond to medications and needed botulinum toxin injection for generalised dystonia. Subsequent whole genome sequencing revealed a likely pathogenic c.98G>A p.(Cys33Tyr) heterozygous variant in the THAP1 gene. She underwent bilateral posteroventral globus pallidus interna (GPi) deep brain stimulation (Medtronic Activa PC) implantation at the age of thirty-one years. She responded well to the deep brain stimulation even after more than 8 years post-surgery though she needs botulinum toxin injection for her cervical dystonia.

Keywords: THAP1; deep brain stimulation; dystonia; mutation; novel.

Publication types

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

MeSH terms

  • Adult
  • Apoptosis Regulatory Proteins
  • Botulinum Toxins*
  • Child
  • DNA-Binding Proteins
  • Deep Brain Stimulation*
  • Dystonic Disorders* / genetics
  • Dystonic Disorders* / therapy
  • Female
  • Globus Pallidus
  • Humans
  • Torticollis*
  • Young Adult

Substances

  • Botulinum Toxins
  • THAP1 protein, human
  • DNA-Binding Proteins
  • Apoptosis Regulatory Proteins

Grants and funding

Christopher Kobylecki has received honoraria for educational talks from Britannia Pharmaceuticals and funding to attend an educational meeting from Abbvie. Shakya Bhattacharjee received travel grant from Britannia Pharmaceuticals and Ipsen Pharma limited. The other authors had no disclosure.