A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
Language English Country England, Great Britain Media electronic
Document type Case Reports, Journal Article
Grant support
825575
lékařská fakulta Univerzity Karlovy
313011W875
Jessenius Faculty of Medicine (SK)
PubMed
36096774
PubMed Central
PMC9465909
DOI
10.1186/s12883-022-02871-3
PII: 10.1186/s12883-022-02871-3
Knihovny.cz E-resources
- Keywords
- DYT6, Deep brain stimulation, Dystonia, Hemorrhage, Seizures,
- MeSH
- DNA-Binding Proteins genetics MeSH
- Dystonic Disorders * genetics therapy MeSH
- Dystonia * genetics therapy MeSH
- Deep Brain Stimulation * adverse effects MeSH
- Nuclear Proteins genetics MeSH
- Humans MeSH
- Apoptosis Regulatory Proteins genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- DNA-Binding Proteins MeSH
- Nuclear Proteins MeSH
- Apoptosis Regulatory Proteins MeSH
- THAP1 protein, human MeSH Browser
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.
Department of Neurology Zvolen Hospital Zvolen Slovakia
Department of Neurosurgery Slovak Medical University and Roosevelt Hospital Banska Bystrica Slovakia
Institute of Human Genetics Technical University of Munich Munich Germany
See more in PubMed
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