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Open Access 01-12-2022 | Torticollis Spasticus | Case report

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

Authors: M. Grofik, M. Cibulka, J. Olekšáková, M. Turčanová Koprušáková, T. Galanda, J. Necpál, P. Jungová, E. Kurča, J Winkelmann, M. Zech, R. Jech

Published in: BMC Neurology | Issue 1/2022

Abstract

Background

DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene.

Case presentation

We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene. We describe the clinical phenotype of this new mutation, effect of pallidal deep brain stimulation (DBS), which was accompanied by two rare postimplantation complications: an early intracerebral hemorrhage and delayed epileptic seizures. Among the published case reports of patients with DYT6 dystonia, the mentioned complications have not been described so far.

Conclusions

DBS in the case of DYT6 dystonia is a challenge to thoroughly consider possible therapeutic benefits and potential risks associated with surgery. Genetic heterogeneity of the disease may also play an important role in predicting the development of the clinical phenotype as well as the effect of treatment including DBS. Therefore, it is beneficial to analyze the genetic and clinical relationships of DYT6 dystonia.

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Title: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
Authors: M. Grofik
M. Cibulka
J. Olekšáková
M. Turčanová Koprušáková
T. Galanda
J. Necpál
P. Jungová
E. Kurča
J Winkelmann
M. Zech
R. Jech
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Torticollis Spasticus
Dystonia
Deep Brain Stimulation
Published in: BMC Neurology / Issue 1/2022
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-022-02871-3

Keynote webinar | Spotlight on medication adherence

Springer Medicine

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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