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

Bhattacharjee, Shakya, Silverdale, Monty A, Bonello, Michael ORCID: 0000-0002-0080-3976, Evans, Julian and Kobylecki, Christopher (2023) Generalized Dystonia Due to a Pathogenic THAP1 Variant Showing Sustained Response to Globus Pallidus Deep Brain Stimulation. Tremor and other hyperkinetic movements (New York, N.Y.), 13 (1). p. 23.

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Official URL: http://dx.doi.org/10.5334/tohm.774

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.

Item Type:	Article
Uncontrolled Keywords:	Globus Pallidus, Humans, Dystonic Disorders, Torticollis, DNA-Binding Proteins, Botulinum Toxins, Deep Brain Stimulation, Adult, Child, Female, Apoptosis Regulatory Proteins, Young Adult
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Infection, Veterinary and Ecological Sciences
Depositing User:	Symplectic Admin
Date Deposited:	31 Jan 2024 10:34
Last Modified:	31 Jan 2024 10:34
DOI:	10.5334/tohm.774
Open Access URL:	https://doi.org/10.5334/tohm.774
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3178178