{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:12:47Z","timestamp":1793157167270,"version":"4.5.0"},"reference-count":28,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T00:00:00Z","timestamp":1749081600000},"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 Disord Clin Pract"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective analysis (2019\u20132023) of 190 patients aged 2\u201387\u2009years, diagnosed with cerebellar ataxia (CA, n\u2009=\u200991), hereditary spastic paraparesis (HSP, n\u2009=\u200951), or dystonia and paroxysmal dyskinesia movement disorders (DPD, n\u2009=\u200948). Workup included next\u2010generation sequencing (NGS) and repeat expansion testing. Undiagnosed cases underwent exome or genome sequencing (ES\/GS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among 190 patients, 38 had a prior genetic diagnosis, and 106 were undiagnosed patients who pursued workup; 43 of 106 (41%) cases were genetically diagnosed: 25 of 43(58%) by NGS, 13 of 43 (30%) by repeat expansion analysis, and 5 of 43(12%) by sequencing for founder mutation or target gene. Diagnostic rate in the newly diagnosed CA subgroup reached 52%, 30% in HSP and 32% in DPD. In the overall cohort, the diagnostic yield of NGS panels was 31% and 33% for ES. Diagnostic yield was significantly higher (\n                      <jats:italic>P<\/jats:italic>\n                      \u2010value&lt;0.05) among patients with early\u2010onset disease or isolated phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We report a high diagnostic yield (41%) compared to reported literature (20%\u201330%), especially in patients with early\u2010onset disease. ES, compared to panel testing, was of greater contribution to diagnosis of complex phenotypes. Our findings argue for early referral to genetic workup, suggesting that tailored workup based on phenotype complexity and age of onset can reduce auxiliary testing. Further cost\u2013benefit analysis is required to lower expenses and ensure timely diagnosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.70145","type":"journal-article","created":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T08:09:42Z","timestamp":1749110982000},"page":"1811-1820","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single\u2010Center Neurogenetics Clinic"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6314-5273","authenticated-orcid":false,"given":"Dvir","family":"Penn","sequence":"first","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yam","family":"Amir","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil Ben","family":"David","sequence":"additional","affiliation":[{"name":"Department of Human Biology Faculty of Natural Sciences, University of Haifa  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alina","family":"Kurolap","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dalit","family":"Barel","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uri","family":"Hamiel","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Bach","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emil","family":"Elhanan","sequence":"additional","affiliation":[{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tali","family":"Barkan","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphna","family":"Marom","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adi","family":"Mory","sequence":"additional","affiliation":[{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noga","family":"Simantov","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gadi Maayan","family":"Eshed","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achinoam","family":"Faust\u2010Socher","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vered","family":"Livneh","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avner","family":"Thaler","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Sagol School of Neurosciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurit","family":"Omer","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Sagol School of Neurosciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Shiner","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Sagol School of Neurosciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nir","family":"Giladi","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Sagol School of Neurosciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Gurevich","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Sagol School of Neurosciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagit Baris","family":"Feldman","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy N.","family":"Alcalay","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Sagol School of Neurosciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"},{"name":"Department of Neurology Columbia University Irving Medical Center  New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penina","family":"Ponger","sequence":"additional","affiliation":[{"name":"Neurological institute Tel\u2010Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University  Tel Aviv Israel"},{"name":"Genetics Institute and Genomics Center Tel Aviv Sourasky Medical Center  Tel Aviv Israel"},{"name":"Sagol School of Neurosciences, Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00722.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23946"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41380-018-0224-0"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2022-328931"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16755"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa063618"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2024.106033"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358801"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0074-3"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(10)70183-6"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-023-01629-y"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.124"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-013-1115-8"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11020246"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-318932"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv310"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182752c5a"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25244"},{"key":"e_1_2_9_20_1","first-page":"29","article-title":"Update on pediatric dystonias: etiology, epidemiology, and management","volume":"2","author":"Fern\u00e1ndez\u2010Alvarez E","year":"2012","journal-title":"Degener Neurol Neuromuscul Dis"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv317"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40035-021-00231-8"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.5334\/tohm.835"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab386"},{"issue":"3","key":"e_1_2_9_26_1","first-page":"390","article-title":"Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene\u2010disease associations and unanticipated rare disorders","volume":"25","author":"Warrenburg BP","year":"2017","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00981"},{"issue":"6","key":"e_1_2_9_28_1","first-page":"373","article-title":"The Israeli National Genetic Database","volume":"11","author":"Zlotogora J","year":"2009","journal-title":"Isr Med Assoc J"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-023-00909-9"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.70145","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T14:03:44Z","timestamp":1763474624000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.70145"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,5]]},"references-count":28,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/mdc3.70145"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.70145","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,5]]},"assertion":[{"value":"2024-12-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}