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While some population-specific variants were reported, many regions of the world remain underexplored. This study investigates the prevalence, types, and clinical associations of <jats:italic>GBA1<\/jats:italic> variants in a large cohort of patients with PD (PwP) from Turkey.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>A total of 716 individuals, including 513 PwP and 203 healthy controls (HC), were evaluated. Genetic analysis of <jats:italic>GBA1<\/jats:italic> variants was performed using nextgeneration sequencing. Additionally, whole exome sequencing (WES) was conducted on participants with detected <jats:italic>GBA1<\/jats:italic> variants. Clinical data, including motor, non-motor, and quality of life assessments, were collected. Enzyme and substrate levels were measured from dry blood spot samples.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>\n              <jats:italic>GBA1<\/jats:italic> variants were found in 13.2% of PD patients, significantly higher than in HC (6.4%), corresponding to an average 2.2-fold higher prevalence. The most frequent variants were p.T369M, p.L444P, and p.N370S. Additionally, 15 variants not previously reported in PD were detected. Patients with pathogenic variants had an earlier age of onset including a higher levodopa-equivalent daily dose and motor complications.<\/jats:p>\n            <jats:p>Enzyme and substrate levels did not differ significantly between the groups. In one patient, WES data showed a <jats:italic>CTSB<\/jats:italic> variant which was reported to modify the effects of <jats:italic>GBA1<\/jats:italic>.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This is the largest study revealing prevalence of <jats:italic>GBA1<\/jats:italic> variants among PwP in Turkey, with significant clinical implications. The findings enrich the literature by expanding the previously unknown landscape of <jats:italic>GBA1<\/jats:italic> variants in this region.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s10072-025-08286-5","type":"journal-article","created":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T17:28:03Z","timestamp":1750440483000},"page":"4361-4373","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor"],"prefix":"10.1007","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0637-417X","authenticated-orcid":false,"given":"Merve","family":"Ko\u00e7 Yeked\u00fcz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0367-4102","authenticated-orcid":false,"given":"Rezzak","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talha","family":"Abali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sema Nur","family":"Kibrit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet Veli","family":"Karacan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif Y\u00fcsra","family":"Unutmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclnur","family":"Ay\u0131k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dudu","family":"Gen\u00e7-Batmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. 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