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Genetic overlap between dystonia and other neurologic disorders: a study of 1,100 exomes

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 disea...

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Main Authors: Dzinovic, Ivana (Author) , Boesch, Sylvia (Author) , Škorvánek, Matej (Author) , Necpál, Ján (Author) , Švantnerová, Jana (Author) , Pavelekova, Petra (Author) , Havránková, Petra (Author) , Tsoma, Eugenia (Author) , Indelicato, Elisabetta (Author) , Runkel, Eva (Author) , Held, Valentin (Author) , Weise, David (Author) , Janzarik, Wibke (Author) , Eckenweiler, Matthias (Author) , Berweck, Steffen (Author) , Mall, Volker (Author) , Haslinger, Bernhard (Author) , Jech, Robert (Author) , Winkelmann, Juliane (Author) , Zech, Michael (Author)
Format: Article (Journal)
Language:English
Published: [September 2022]
In: Parkinsonism & related disorders
Year: 2022, Volume: 102, Pages: 1-6
ISSN:1873-5126
DOI:10.1016/j.parkreldis.2022.07.003
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.parkreldis.2022.07.003
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1353802022002206
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Author Notes:Ivana Dzinovic, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Petra Pavelekova, Petra Havránková, Eugenia Tsoma, Elisabetta Indelicato, Eva Runkel, Valentin Held, David Weise, Wibke Janzarik, Matthias Eckenweiler, Steffen Berweck, Volker Mall, Bernhard Haslinger, Robert Jech, Juliane Winkelmann, Michael Zech

MARC

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520 |a 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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