{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T00:56:28Z","timestamp":1780707388117,"version":"3.54.1"},"reference-count":35,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:00:00Z","timestamp":1698710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004704","name":"National Research Council of Thailand","doi-asserted-by":"crossref","award":["NRCT5-RSA63001-25"],"award-info":[{"award-number":["NRCT5-RSA63001-25"]}],"id":[{"id":"10.13039\/501100004704","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Thailand Science Research and Innovation Fund Chulalongkorn University","award":["HEA663000054"],"award-info":[{"award-number":["HEA663000054"]}]},{"name":"Ratchadapiseksompotch Fund","award":["RA61\/046"],"award-info":[{"award-number":["RA61\/046"]}]},{"name":"Ratchadapiseksompotch Fund","award":["GA64\/11"],"award-info":[{"award-number":["GA64\/11"]}]},{"name":"Ratchadapiseksompotch Fund","award":["RA65\/023"],"award-info":[{"award-number":["RA65\/023"]}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Background<\/jats:title>\n<jats:p>With the benefit of using next-generation sequencing (NGS), our aim was to examine the prevalence of known monogenic causes in early-onset Parkinson\u2019s disease (EOPD) patients in Thailand. The association between clinical features, such as levodopa-induced dyskinesia (LID), and genotypes were also explored.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Method<\/jats:title>\n<jats:p>NGS studies were carried out for EOPD patients in the Tertiary-referral center for Parkinson\u2019s disease and movement disorders. EOPD patients who had LID symptoms were enrolled in this study (n = 47). We defined EOPD as a patient with onset of PD at or below 50 years of age. LID was defined as hyperkinetic movements including chorea, ballism, dystonia, myoclonus, or any combination of these movements resulting from levodopa therapy, which could be peak-dose, off-period, or diphasic dyskinesias.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Results<\/jats:title>\n<jats:p>Pathogenic variants were identified in 17% (8\/47) of the Thai EOPD patients, of which 10.6% (5\/47) were heterozygous <jats:italic>GBA<\/jats:italic> variants (c.1448T&gt;C in 3 patients and c.115+1G&gt;A in 2 patients), 4.3% (2\/47) homozygous <jats:italic>PINK1<\/jats:italic> variants (c.1474C&gt;T) and 2.1% (1\/47) a <jats:italic>PRKN<\/jats:italic> mutation (homozygous deletion of exon 7). The LID onset was earlier in patients with <jats:italic>GBA<\/jats:italic> mutations compared to those without (34.8\u00b123.4 vs 106.2\u00b159.5 months after starting levodopa, respectively, <jats:italic>p<\/jats:italic> = 0.001). LID onset within the first 30 months of the disease was also found to be independently associated with the <jats:italic>GBA<\/jats:italic> mutation (odds ratio [95% confidence interval] = 25.00 [2.12\u2013295.06], <jats:italic>p<\/jats:italic> = 0.011).<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Our study highlights the high prevalence of <jats:italic>GBA<\/jats:italic> pathogenic variants in Thai patients with EOPD and the independent association of these variants with the earlier onset of LID. This emphasizes the importance of genetic testing in this population.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0293516","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T17:26:10Z","timestamp":1698773170000},"page":"e0293516","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":8,"title":["Levodopa-induced dyskinesia in early-onset Parkinson\u2019s disease (EOPD) associates with glucocerebrosidase mutation: A next-generation sequencing study in EOPD patients in Thailand"],"prefix":"10.1371","volume":"18","author":[{"given":"Sekh","family":"Thanprasertsuk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prasit","family":"Phowthongkum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thitipong","family":"Hopetrungraung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chalalai","family":"Poorirerngpoom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tikumphorn","family":"Sathirapatya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patsorn","family":"Wichit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onanong","family":"Phokaewvarangkul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kornkiat","family":"Vongpaisarnsin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2357-3568","authenticated-orcid":true,"given":"Saknan","family":"Bongsebandhu-phubhakdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roongroj","family":"Bhidayasiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2023,10,31]]},"reference":[{"key":"pone.0293516.ref001","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/mds.25249","article-title":"The 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