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Title:

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

Document type:
Article; Case Reports; Journal Article
Author(s):
Grofik, M; Cibulka, M; Olekšáková, J; Turčanová Koprušáková, M; Galanda, T; Necpál, J; Jungová, P; Kurča, E; Winkelmann, J; Zech, M; Jech, R
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 intracerebra...     »
Journal title abbreviation:
BMC Neurol
Year:
2022
Journal volume:
22
Journal issue:
1
Fulltext / DOI:
doi:10.1186/s12883-022-02871-3
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/36096774
Print-ISSN:
1471-2377
TUM Institution:
Lehrstuhl für Neurogenetik (N.N.)
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