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A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report.
Grofik, M; Cibulka, M; Oleksáková, J; Turcanová Koprusáková, M; Galanda, T; Necpál, J; Jungová, P; Kurca, E; Winkelmann, J; Zech, M; Jech, R.
Afiliación
  • Grofik M; Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.
  • Cibulka M; Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Bratislava, Slovakia. michal.cibulka@uniba.sk.
  • Oleksáková J; Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.
  • Turcanová Koprusáková M; Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.
  • Galanda T; Department of Neurosurgery, Slovak Medical University and Roosevelt Hospital, Banska Bystrica, Slovakia.
  • Necpál J; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia.
  • Jungová P; Department of Molecular and Biochemical Genetics - Centre of Rare Genetic Diseases, Faculty of Medicine & Comenius University, University Hospital Bratislava, Bratislava, Slovakia.
  • Kurca E; Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin, Martin, Slovakia.
  • Winkelmann J; Institute of Neurogenomics, Helmholtz Centrum, Munich, Germany.
  • Zech M; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
  • Jech R; Institute of Neurogenomics, Helmholtz Centrum, Munich, Germany.
BMC Neurol ; 22(1): 344, 2022 Sep 12.
Article en En | MEDLINE | ID: mdl-36096774
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Distónicos / Estimulación Encefálica Profunda / Distonía Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Eslovaquia Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Distónicos / Estimulación Encefálica Profunda / Distonía Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: BMC Neurol Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Eslovaquia Pais de publicación: Reino Unido