{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T02:04:25Z","timestamp":1789869865038,"version":"4.0.1"},"reference-count":29,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2006,4,18]],"date-time":"2006-04-18T00:00:00Z","timestamp":1145318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We screened <jats:italic>LRRK2<\/jats:italic> mutations in exon 41 in 904 <jats:italic>parkin<\/jats:italic>\u2010negative Parkinson's disease (PD) patients (868 probands) from 18 countries across 5 continents. We found three heterozygous missense (novel I2012T, G2019S, and I2020T) mutations in <jats:italic>LRRK2<\/jats:italic> exon 41. We identified 11 (1.3%) among 868 PD probands, including 2 sporadic cases and 8 (6.2%) of 130 autosomal dominant PD families. The <jats:italic>LRRK2<\/jats:italic> mutations in exon 41 exhibited relatively common and worldwide distribution. Among the three mutations in exon 41, it has been reported that Caucasian patients with G2019S mutation have a single\u2010founder effect. In the present study, Japanese patients with G2019S were unlikely to have a single founder from the Caucasian patients. In contrast, I2020T mutation has a single\u2010founder effect in Japanese patients. Clinically, patients with <jats:italic>LRRK2<\/jats:italic> mutations had typical idiopathic PD. Notably, several patients developed dementia and psychosis, and one with I2020T had low cardiac <jats:sup>123<\/jats:sup>I\u2010metaiodobenzylguanidine (MIBG) heart\/mediastinum ratio, although the ratio was not low in other patients with I2020T or G2019S. Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with <jats:italic>LRRK2<\/jats:italic> mutations. \u00a9 2006 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20886","type":"journal-article","created":{"date-parts":[[2006,4,18]],"date-time":"2006-04-18T17:57:28Z","timestamp":1145383048000},"page":"1102-1108","source":"Crossref","is-referenced-by-count":94,"title":["Clinicogenetic study of mutations in <i>LRRK2<\/i> exon 41 in Parkinson's disease patients from 18 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