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

Ignacio J. Keller Sarmiento, Avram Fraint, Lisa Kinsley, Rizwan S. Akhtar, Vincenzo Silani, Steven J. Lubbe, Dimitri Krainc, Niccolò E. Mencacci*

*Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

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.

Original languageEnglish (US)
Pages (from-to)7-8
Number of pages2
JournalParkinsonism and Related Disorders
Volume105
DOIs
StatePublished - Dec 2022

Keywords

  • Deep brain stimulation
  • Generalized dystonia
  • Incomplete penetrance
  • Pathogenic variant
  • THAP1

ASJC Scopus subject areas

  • Neurology
  • Geriatrics and Gerontology
  • Clinical Neurology

Fingerprint

Dive into the research topics of 'Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation'. Together they form a unique fingerprint.

Cite this