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Dzinovic, I. ; Boesch, S.* ; Škorvánek, M.* ; Necpál, J.* ; Švantnerová, J.* ; Pavelekova, P.* ; Havránková, P.* ; Tsoma, E.* ; Indelicato, E.* ; Runkel, E.* ; Held, V.* ; Weise, D.* ; Janzarik, W.G.* ; Eckenweiler, M.* ; Berweck, S.* ; Mall, V.* ; Haslinger, B.* ; Jech, R.* ; Winkelmann, J. ; Zech, M.

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

Parkinsonism Relat. Disord. 102, 1-6 (2022)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Dystonia ; Exome Sequencing ; Molecular Overlap ; Panel ; Shared Genes
ISSN (print) / ISBN 1353-8020
e-ISSN 1873-5126
Zeitschrift Parkinsonism & Related Disorders
Quellenangaben Band: 102, Heft: , Seiten: 1-6 Artikelnummer: , Supplement: ,
Verlag Elsevier
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen European Regional Development Fund
Technische Universität München
Else Kroner-Fresenius-Stiftung
Ministerstvo Školství, Mládeže a Tělovýchovy
Deutsche Forschungsgemeinschaft
European Commission
Univerzita Karlova v Praze
National Institute for Neurological Research
Helmholtz Zentrum München, Munich, Germany, Medizinische Universität Innsbruck