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.

2nd Department of Neurology Faculty of Medicine Comenius University University Hospital Bratislava Bratislava Slovakia

Department of Neurology Charles University 1st Faculty of Medicine and General University Hospital Prague Prague Czech Republic

Department of Neurology Klinikum rechts der Isar Technical University of Munich School of Medicine Munich Germany

Department of Neurology Medical Faculty Mannheim Heidelberg University Mannheim Germany

Department of Neurology Medical University of Innsbruck Innsbruck Austria

Department of Neurology P J Safarik University Kosice Slovak Republic; Department of Neurology University Hospital of L Pasteur Kosice Slovak Republic

Department of Neurology Zvolen Hospital Slovakia

Department of Neuropediatrics and Muscle Disorders University Medical Center Faculty of Medicine University of Freiburg Germany

Institute of Neurogenomics Helmholtz Zentrum München Munich Germany; Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany

Institute of Neurogenomics Helmholtz Zentrum München Munich Germany; Institute of Human Genetics School of Medicine Technical University of Munich Munich Germany; Lehrstuhl für Neurogenetik Technische Universität München Munich Germany; Munich Cluster for Systems Neurology SyNergy Munich Germany

Klinik für Neurologie Asklepios Fachklinikum Stadtroda Stadtroda Germany; Department of Neurology University of Leipzig Leipzig Germany

Klinikum Aschaffenburg Alzenau Aschaffenburg Germany

Lehrstuhl für Sozialpädiatrie Technische Universität München Munich Germany; kbo Kinderzentrum München Munich Germany

Ludwig Maximilian University of Munich Munich Germany; Hospital for Neuropediatrics and Neurological Rehabilitation Centre of Epilepsy for Children and Adolescents Schoen Klinik Vogtareuth Vogtareuth Germany

Regional Clinical Center of Neurosurgery and Neurology Department of Family Medicine and Outpatient Care Uzhhorod National University Uzhhorod Ukraine

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