{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:13:00Z","timestamp":1760058780694,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T00:00:00Z","timestamp":1745539200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The Movement Disorders Society recommends the DYT\/PARK prefix for genes where dystonia and parkinsonism are prominent in approximately half or more of patients. This systematic review explores the genotype\u2013phenotype correlations of GLB1, SLC6A3, SLC30A10, PLA2G6, and SLC39A14\u2014recently classified as DYT SLC39A14 and historically linked to dystonia-parkinsonism. We searched PubMed and the Human Gene Mutation Database using standardized terms, including English-language, peer-reviewed publications up to February 2024. Following the MDSGene protocol, we extracted individual-level data on patients with biallelic pathogenic variants and at least one movement disorder. Features were marked \u201cmissing\u201d if not explicitly reported. Of 1828 articles, 128 were eligible. We identified 386 patients and 262 variants. The median age at onset was 3 years for GLB1, 3 months for SLC6A3, 2.5 years for SLC30A10, 1.5 years for SLC39A14, and 16 years for PLA2G6. Missing data may reflect underreporting of negative findings. Case reports\/serie, may bias toward atypical presentations. Our analysis showed dystonia-parkinsonism predominates in SLC6A3 and PLA2G6, while GLB1, SLC30A10, and SLC39A1 show predominantly dystonic phenotypes with a low frequency of parkinsonism. Ataxia was common in GLB1 and PLA2G6. Awareness of these phenotypes is essential for early diagnosis and intervention, particularly in treatable conditions like SLC30A10 or SLC39A14. The predominantly dystonic phenotype in GLB1, SLC30A10, and SLC39A14 suggest that the DYT prefix may be more appropriate, highlighting the need to reconsider their nomenclature, and the importance of systematic reviews.<\/jats:p>","DOI":"10.3390\/ijms26094074","type":"journal-article","created":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T08:02:57Z","timestamp":1745568177000},"page":"4074","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genotype\u2013Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9316-1772","authenticated-orcid":false,"given":"Jon","family":"Rodriguez-Antiguedad","sequence":"first","affiliation":[{"name":"Movement Disorders Unit, Sant Pau Hospital, 08041 Barcelona, Spain"},{"name":"Institut de Investigacions Biom\u00e8diques-Sant Pau, 08041 Barcelona, Spain"},{"name":"Medicine Department, Universitat Aut\u00f2noma de Barcelona (UAB), 08193 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red Enfermedades Neurodegenerativas (CIBERNED), 28031 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2564-7375","authenticated-orcid":false,"given":"Rajasumi","family":"Rajalingam","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI 49008, USA"},{"name":"Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson\u2019s Disease, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Kr\u00fcger","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck, 23562 L\u00fcbeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0182-424X","authenticated-orcid":false,"given":"Daniel","family":"Teixeira-dos-Santos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital de Clinicas de Porto Alegre, Porto Alegre 90035-903, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Sun","sequence":"additional","affiliation":[{"name":"Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson\u2019s Disease, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elias","family":"Fernandez-Toledo","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Pontificia Universidad Cat\u00f3lica de Chile, Santiago 7820436, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3985-2529","authenticated-orcid":false,"given":"Alexia","family":"Duarte","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Health Sciences Sector, Federal University of Paran\u00e1, Curitiba 81531-980, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8056-365X","authenticated-orcid":false,"given":"Paula","family":"Saffie-Awad","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Santa Mar\u00eda, Santiago 7520349, Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew J.","family":"Barrett","sequence":"additional","affiliation":[{"name":"Department of Neurology, Virginia Commonwealth University, Richmond, VA 23220, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph L.","family":"Flanigan","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Virginia, Charlottesville, VA 22903, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maziar","family":"Emamikhah","sequence":"additional","affiliation":[{"name":"Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson\u2019s Disease, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neepa","family":"Patel","sequence":"additional","affiliation":[{"name":"RUSH Parkinson\u2019s Disease and Movement Disorders Program, Department of Neurological Sciences, RUSH University Medical Center, Chicago, IL 60612, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"San Luciano","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0722-5272","authenticated-orcid":false,"given":"Christine","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of South Carolina, Charleston, SC 29425, USA"},{"name":"Neurology Service, Ralph H. 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Safra Program in Parkinson\u2019s Disease, Toronto Western Hospital, University of Toronto, Toronto, ON M5T 2S8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9829-6783","authenticated-orcid":false,"given":"Sarah","family":"Camargos","sequence":"additional","affiliation":[{"name":"Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital das Cl\u00ednicas, The Federal University of Minas Gerais, Belo Horizonte 30130-100, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"120016","DOI":"10.1016\/j.jns.2021.120016","article-title":"Parkinsonism and Dystonia: Clinical Spectrum and Diagnostic Clues","volume":"433","author":"Fung","year":"2022","journal-title":"J. Neurol. 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