{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T15:51:57Z","timestamp":1791820317291,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole\u2010exome sequencing (WES) based on individual phenotypic aspects (age\u2010at\u2010onset, body distribution, presenting comorbidity).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We prospectively enrolled a set of 209 dystonia\u2010affected families and obtained summary scores (0\u20135 points) according to the algorithm. Singleton (N\u00a0=\u00a0146), duo (N\u00a0=\u00a011), and trio (N\u00a0=\u00a052) WES data were generated to identify genetic diagnoses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Diagnostic yield was highest (51%) among individuals with a summary score of 5, corresponding to a manifestation of early\u2010onset segmental or generalized dystonia with coexisting non\u2010movement disorder\u2010related neurological symptoms. Sensitivity and specificity at the previously suggested threshold for implementation of WES (3 points) was 96% and 52%, with area under the curve of 0.81.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The algorithm is a useful predictive tool and could be integrated into dystonia routine diagnostic protocols. \u00a9 2021 The Authors. <jats:italic>Movement Disorders<\/jats:italic> published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.28614","type":"journal-article","created":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T10:02:33Z","timestamp":1620208953000},"page":"1959-1964","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Scoring Algorithm\u2010Based Genomic Testing in Dystonia: A Prospective Validation Study"],"prefix":"10.1002","volume":"36","author":[{"given":"Michael","family":"Zech","sequence":"first","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9732-8947","authenticated-orcid":false,"given":"Robert","family":"Jech","sequence":"additional","affiliation":[{"name":"Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Boesch","sequence":"additional","affiliation":[{"name":"Department of Neurology Medical University Innsbruck  Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matej","family":"\u0160korv\u00e1nek","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. Safarik University  Kosice Slovak Republic"},{"name":"Department of Neurology University Hospital of L. Pasteur  Kosice Slovak Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4626-9588","authenticated-orcid":false,"given":"J\u00e1n","family":"Necp\u00e1l","sequence":"additional","affiliation":[{"name":"Department of Neurology Zvolen Hospital  Zvolen Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"\u0160vantnerov\u00e1","sequence":"additional","affiliation":[{"name":"Second Department of Neurology, Faculty of Medicine Comenius University, University Hospital Bratislava  Bratislava Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4454-8823","authenticated-orcid":false,"given":"Matias","family":"Wagner","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute of Human Genetics Technical University of Munich  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Sadr\u2010Nabavi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine, Mashhad University of Medical Sciences  Mashhad Iran"},{"name":"Department of Neurology, Faculty of Medicine Mashhad University of Medical Sciences, Qaem Medical Center  Mashhad Iran"},{"name":"Academic Center for Education Culture and Research (ACECR)\u2010Khorasan Razavi  Mashhad Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty Heinrich\u2010Heine\u2010University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Krenn","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University of Munich  Munich Germany"},{"name":"Department of Neurology Medical University of Vienna  Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6525-3971","authenticated-orcid":false,"given":"Tereza","family":"Serranov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irena","family":"Rektorov\u00e1","sequence":"additional","affiliation":[{"name":"First Department of Neurology, Faculty of Medicine, St. Anne's University Hospital and CEITEC Masaryk University  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Havr\u00e1nkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Neurology Charles University, 1st Faculty of Medicine and General University Hospital in Prague  Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Mosejov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Neurology P.J. 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