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

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 THAP...

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Bibliographic Details
Published in:BMC neurology 2022-09, Vol.22 (1), p.1-344, Article 344
Main Authors: Grofik, M, Cibulka, M, OlekÅ¡áková, J, Turcanová KopruÅ¡áková, M, Galanda, T, Necpál, J, Jungová, P, Kurca, E, Winkelmann, J, Zech, M, Jech, R
Format: Article
Language:English
Subjects:
Age
Analysis
Brain stimulation
Care and treatment
Case Report
Case reports
Complications and side effects
Convulsions & seizures
Cysts
Deep brain stimulation
Diagnosis
Dystonia
DYT6
Electrodes
Epilepsy
Genetic aspects
Genotype & phenotype
Hemorrhage
Mutation
Patients
Phenotypes
Prevention
Risk factors
Seizures
Speech disorders
Transcription factors
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Summary: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. Keywords: DYT6, Dystonia, Deep brain stimulation, Hemorrhage, Seizures
ISSN:1471-2377
1471-2377
DOI:10.1186/s12883-022-02871-3