A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
M. Grofik,
M. Cibulka,
J. Olekšáková,
M. Turčanová Koprušáková,
T. Galanda,
J. Necpál,
P. Jungová,
E. Kurča,
J Winkelmann,
M. Zech,
R. Jech
Affiliations
M. Grofik
Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin
M. Cibulka
Biomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava
J. Olekšáková
Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin
M. Turčanová Koprušáková
Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin
T. Galanda
Department of Neurosurgery, Slovak Medical University and Roosevelt Hospital
J. Necpál
Department of Neurology, Zvolen Hospital
P. Jungová
Department of Molecular and Biochemical Genetics - Centre of Rare Genetic Diseases, Faculty of Medicine & Comenius University, University Hospital Bratislava
E. Kurča
Department of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava and University Hospital Martin
J Winkelmann
Institute of Neurogenomics
M. Zech
Department of Molecular and Biochemical Genetics - Centre of Rare Genetic Diseases, Faculty of Medicine & Comenius University, University Hospital Bratislava
R. Jech
Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital
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 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.
