{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T06:24:47Z","timestamp":1791181487516,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T00:00:00Z","timestamp":1245974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"MEXT of Japan","award":["#20023028"],"award-info":[{"award-number":["#20023028"]}]},{"name":"Eli-Lilly scholarship"},{"DOI":"10.13039\/501100005731","name":"Juntendo University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005731","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Tokyo Medical University","award":["E-III-2"],"award-info":[{"award-number":["E-III-2"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2009,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication is a recognized cause of familial Parkinson's disease (PD). We aimed to explore the genetic and clinical variability in the disease manifestation. Molecular characterization was performed using real\u2010time PCR, SNP arrays, and haplotype analysis. We further studied those patients who were found to harbor\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication with olfactory function tests, polysomnography, and PET. We identified four new families and one sporadic patient with\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication. Eleven symptomatic patients from these four families presented with parkinsonism, of which three subsequently developed dementia. The lifetime estimate of overall penetrance was 43.8%. FDG\u2013PET study of symptomatic patients showed hypometabolism in the occipital lobe, whereas asymptomatic carriers of\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication demonstrated normal glucose metabolism. Symptomatic patients showed abnormal olfactory function and polysomnography and asymptomatic carriers showed normal results. The clinical features of\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication include parkinsonism with or without dementia. Asymptomatic carriers displayed normal test results with the eldest individual aged 79 years; thus, even a carrier of\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication may escape the development of PD. This difference in age\u2010associated penetrance may be due to the genetic background or environmental exposures. Further studies of\n                    <jats:italic>SNCA<\/jats:italic>\n                    duplication carriers will help identify disease\u2010modifiers and may open novel avenues for future treatment. \u00a9 2009 Movement Disorder Society\n                  <\/jats:p>","DOI":"10.1002\/mds.22682","type":"journal-article","created":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T16:30:36Z","timestamp":1246033836000},"page":"1811-1819","source":"Crossref","is-referenced-by-count":115,"title":["Expanding the clinical phenotype of\n                    <i>SNCA<\/i>\n                    duplication carriers"],"prefix":"10.1002","volume":"24","author":[{"given":"Kenya","family":"Nishioka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen 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