{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:16:53Z","timestamp":1787062613022,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,9,19]],"date-time":"2020-09-19T00:00:00Z","timestamp":1600473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      MDSGene is an online database on movement disorders that collates genetic and clinical knowledge using a standardized published literature abstraction strategy. This review is dedicated to X\u2010linked dystonia\u2010parkinsonism (XDP). We screened 233 citations and curated phenotypic and genotypic data for 414 cases. To reduce data missingness, we (1) contacted authors and engaged the research community to provide additional clinical and genetic information, and (2) revisited previously unpublished data from a cohort of XDP patients seen at our institution. Using these approaches, we expanded the cohort to 577 cases and increased information available for important clinical and genetic features such as age at onset, initial manifestation, predominant motor symptoms, functional impairments, and repeat size information. We established the use of mining unpublished data to expand the MDSGene workflow and present an up\u2010to\u2010date description of the phenomenology of XDP using an extensive collection of previously reported and unreported data. \u00a9 2020 The Authors.\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.28289","type":"journal-article","created":{"date-parts":[[2020,9,19]],"date-time":"2020-09-19T09:05:35Z","timestamp":1600506335000},"page":"1933-1938","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Expanding Data Collection for the\n                    <scp>MDSGene<\/scp>\n                    Database: X\u2010linked Dystonia\u2010Parkinsonism as Use Case Example"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7794-0282","authenticated-orcid":false,"given":"Martje G.","family":"Pauly","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Institute of Systems Motor Science University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Ruiz L\u00f3pez","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Cruces University Hospital  Barakaldo Bizkaia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Westenberger","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Saranza","sequence":"additional","affiliation":[{"name":"Edmond J. Safra Program in Parkinson\u02bcs Disease and the Morton and Gloria Shulman Movement Disorders Centre Toronto Western Hospital  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5969-6899","authenticated-orcid":false,"given":"Norbert","family":"Br\u00fcggemann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Department of Neurology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Weissbach","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Institute of Systems Motor Science University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond L.","family":"Rosales","sequence":"additional","affiliation":[{"name":"Department of Neurology and Psychiatry Pontifical and Royal University of Santo Tomas and Hospital  Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cid C.","family":"Diesta","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Makati Medical Center  Makati City Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland D.G.","family":"Jamora","sequence":"additional","affiliation":[{"name":"Department of Neurosciences College of Medicine\u2010Philippine General Hospital, University of the Philippines Manila  Manila Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles J.","family":"Reyes","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harutyun","family":"Madoev","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Petkovic","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie J.","family":"Ozelius","sequence":"additional","affiliation":[{"name":"Collaborative Center for X\u2010linked Dystonia Parkinsonism, Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aloysius","family":"Domingo","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics University of L\u00fcbeck  L\u00fcbeck Germany"},{"name":"Collaborative Center for X\u2010linked Dystonia Parkinsonism, Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"},{"name":"Center for Genomic Medicine Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3233\/JPD-181505"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2010.526728"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27527"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27352"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.292"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1712526114"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25488"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.1.73"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22340"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/512129"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.02.011"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10271"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2004.04.011"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2010.544433"},{"key":"e_1_2_8_16_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.parkreldis.2018.09.022","article-title":"Long\u2010term outcomes of pallidal deep brain stimulation in X\u2010linked dystonia parkinsonism (XDP): up to 84 months follow\u2010up and review of literature","volume":"60","author":"Abejero JEE","year":"2018","journal-title":"Parkinsonism Relat Disord"},{"key":"e_1_2_8_17_1","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1159\/000492823","article-title":"Long\u2010term outcomes of bilateral pallidal deep brain stimulation for X\u2010linked dystonia and parkinsonism","volume":"96","author":"Kilbane C","year":"2018","journal-title":"Stereotact Funct Neurosurg"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000319961"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.27441"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2018.3777"},{"key":"e_1_2_8_21_1","first-page":"362","article-title":"Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP)","volume":"54","author":"Lee 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