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Berweck, Steffen 1 Boesch, Sylvia 1 Dzinovic, Ivana 1 Eckenweiler, Matthias 1 Haslinger, Bernhard 1 Havránková, Petra 1 Held, Valentin 1 Indelicato, Elisabetta 1 Janzarik, Wibke 1 Jech, Robert 1 Mall, Volker 1 Necpál, Ján 1 Pavelekova, Petra 1 Runkel, Eva 1 Tsoma, Eugenia 1 Weise, David 1 Winkelmann, Juliane 1 Zech, Michael 1 Škorvánek, Matej 1 Švantnerová, Jana 1
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2nd Department of Neurology Faculty o... 1 Department of Neurology Charles Unive... 1 Department of Neurology Klinikum rech... 1 Department of Neurology Medical Facul... 1 Department of Neurology Medical Unive... 1 Department of Neurology P J Safarik U... 1 Department of Neurology University Ho... 1 Department of Neurology University of... 1 Department of Neurology Zvolen Hospit... 1 Department of Neuropediatrics and Mus... 1 Hospital for Neuropediatrics and Neur... 1 Institute of Human Genetics School of... 1 Institute of Neurogenomics Helmholtz ... 1 Klinik für Neurologie Asklepios Fachk... 1 Klinikum Aschaffenburg Alzenau Aschaf... 1 Lehrstuhl für Neurogenetik Technische... 1 Lehrstuhl für Sozialpädiatrie Technis... 1 Ludwig Maximilian University of Munic... 1 Munich Cluster for Systems Neurology ... 1 Regional Clinical Center of Neurosurg... 1
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Autor
Berweck, Steffen 1 Boesch, Sylvia 1 Dzinovic, Ivana 1 Eckenweiler, Matthias 1 Haslinger, Bernhard 1 Havránková, Petra 1 Held, Valentin 1 Indelicato, Elisabetta 1 Janzarik, Wibke 1 Jech, Robert 1 Mall, Volker 1 Necpál, Ján 1 Pavelekova, Petra 1 Runkel, Eva 1 Tsoma, Eugenia 1 Weise, David 1 Winkelmann, Juliane 1 Zech, Michael 1 Škorvánek, Matej 1 Švantnerová, Jana 1
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Pracoviště
2nd Department of Neurology Faculty o... 1 Department of Neurology Charles Unive... 1 Department of Neurology Klinikum rech... 1 Department of Neurology Medical Facul... 1 Department of Neurology Medical Unive... 1 Department of Neurology P J Safarik U... 1 Department of Neurology University Ho... 1 Department of Neurology University of... 1 Department of Neurology Zvolen Hospit... 1 Department of Neuropediatrics and Mus... 1 Hospital for Neuropediatrics and Neur... 1 Institute of Human Genetics School of... 1 Institute of Neurogenomics Helmholtz ... 1 Klinik für Neurologie Asklepios Fachk... 1 Klinikum Aschaffenburg Alzenau Aschaf... 1 Lehrstuhl für Neurogenetik Technische... 1 Lehrstuhl für Sozialpädiatrie Technis... 1 Ludwig Maximilian University of Munic... 1 Munich Cluster for Systems Neurology ... 1 Regional Clinical Center of Neurosurg... 1
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INTRODUCTION: Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available. In a large dystonic cohort, we aimed at analyzing the proportions of causative variants in genes associated with disease categories other than dystonia. METHODS: Gene findings related to whole-exome sequencing-derived diagnoses in 1100 dystonia index cases were compared with expert-curated molecular testing panels for ataxia, parkinsonism, spastic paraplegia, neuropathy, epilepsy, and intellectual disability. RESULTS: Among 220 diagnosed patients, 21% had variants in ataxia-linked genes; 15% in parkinsonism-linked genes; 15% in spastic-paraplegia-linked genes; 12% in neuropathy-linked genes; 32% in epilepsy-linked genes; and 65% in intellectual-disability-linked genes. Most diagnosed presentations (80%) were related to genes listed in ≥1 studied panel; 71% of the involved loci were found in the non-dystonia panels but not in an expert-curated gene list for dystonia. CONCLUSIONS: Our study indicates a convergence in the genetics of dystonia and other neurologic phenotypes, informing diagnostic evaluation strategies and pathophysiological considerations.
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