{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T02:04:33Z","timestamp":1789869873596,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T00:00:00Z","timestamp":1347926400000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2012,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Vacuolar protein sorting 35 <jats:italic>(VPS35)<\/jats:italic> was recently reported to be a pathogenic gene for late\u2010onset autosomal dominant Parkinson's disease (PD), using exome sequencing. To date, <jats:italic>VPS35<\/jats:italic> mutations have been detected only in whites with PD. The aim of the present study was to determine the incidence and clinical features of Asian PD patients with <jats:italic>VPS35<\/jats:italic> mutations. We screened 7 reported nonsynonymous missense variants of <jats:italic>VPS35<\/jats:italic>, including p.D620N, known as potentially disease\u2010associated variants of PD, in 300 Japanese index patients with autosomal dominant PD and 433 patients with sporadic PD (SPD) by direct sequencing or high\u2010resolution melting (HRM) analysis. In addition, we screened 579 controls for the p.D620N mutation by HRM analysis. The p.D620N mutation was detected in 3 patients with autosomal dominant PD (1.0%), in 1 patient with SPD (0.23%), and in no controls. None of the other reported variants of <jats:italic>VPS35<\/jats:italic> were detected. Haplotype analysis suggested at least 3 independent founders for Japanese patients with p.D620N mutation. Patients with the <jats:italic>VPS35<\/jats:italic> mutation showed typical tremor\u2010predominant PD. We report Asian PD patients with the <jats:italic>VPS35<\/jats:italic> mutation. Although <jats:italic>VPS35<\/jats:italic> mutations are uncommon in PD, the frequency of such mutation is relatively higher in Japanese than reported in other populations. In <jats:italic>VPS35<\/jats:italic>, p.D620N substitution may be a mutational hot spot across different ethnic populations. Based on the clinical features, <jats:italic>VPS35<\/jats:italic> should be analyzed in patients with PD, especially autosomal dominant PD or tremor\u2010predominant PD. \u00a9 2012 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.25145","type":"journal-article","created":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T15:51:09Z","timestamp":1347983469000},"page":"1413-1417","source":"Crossref","is-referenced-by-count":75,"title":["<i>VPS35<\/i> mutation in Japanese patients with typical Parkinson's 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