A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.
DYT6
Deep brain stimulation
Dystonia
Hemorrhage
Seizures
Journal
BMC neurology
ISSN: 1471-2377
Titre abrégé: BMC Neurol
Pays: England
ID NLM: 100968555
Informations de publication
Date de publication:
12 Sep 2022
12 Sep 2022
Historique:
received:
03
06
2022
accepted:
02
09
2022
entrez:
12
9
2022
pubmed:
13
9
2022
medline:
15
9
2022
Statut:
epublish
Résumé
DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene. 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. 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.
Sections du résumé
BACKGROUND
BACKGROUND
DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene.
CASE PRESENTATION
METHODS
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
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.
Identifiants
pubmed: 36096774
doi: 10.1186/s12883-022-02871-3
pii: 10.1186/s12883-022-02871-3
pmc: PMC9465909
doi:
Substances chimiques
Apoptosis Regulatory Proteins
0
DNA-Binding Proteins
0
Nuclear Proteins
0
THAP1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
344Subventions
Organisme : lékařská fakulta Univerzity Karlovy
ID : 825575
Organisme : Jessenius Faculty of Medicine (SK)
ID : 313011W875
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2022. The Author(s).
Références
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