{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T03:06:17Z","timestamp":1790996777267,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,3,29]],"date-time":"2016-03-29T00:00:00Z","timestamp":1459209600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"MEFOPA grant","award":["FP7-HEALTH-241791"],"award-info":[{"award-number":["FP7-HEALTH-241791"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>G209A <jats:italic>SNCA<\/jats:italic> mutation carriers represent an important group of genetic PD. We describe motor and nonmotor features of G209A <jats:italic>SNCA<\/jats:italic> mutation carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Longitudinal clinical assessments over 2 years were collected in 22 symptomatic and 8 asymptomatic G209A <jats:italic>SNCA<\/jats:italic> mutation carriers. Motor and nonmotor rating scales were administered. Correlations were performed between clinical variables and disease duration or age. Penetrance was calculated using Kaplan\u2010Meier survival curves.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Asymptomatic carriers did not manifest clear premotor symptoms, but symptomatic carriers often reported that olfactory dysfunction and rapid eye movement sleep behavior disorder preceded motor symptoms. Prominent motor decline and deterioration of autonomic and cognitive function occurred at follow\u2010up; such nonmotor features correlated with disease duration, but not age. Disease penetrance was estimated at around 90%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study may help to inform clinical trials and provide the basis for studies of disease modifiers in genetic synucleinopathy cohorts. \u00a9 2016 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.26615","type":"journal-article","created":{"date-parts":[[2016,3,31]],"date-time":"2016-03-31T09:52:37Z","timestamp":1459417957000},"page":"1226-1230","source":"Crossref","is-referenced-by-count":78,"title":["Motor and Nonmotor Features of Carriers of the p.A53T Alpha\u2010Synuclein Mutation: A Longitudinal Study"],"prefix":"10.1002","volume":"31","author":[{"given":"Dimitra","family":"Papadimitriou","sequence":"first","affiliation":[{"name":"Henry Dunant Hospital Center Athens Greece"},{"name":"Biomedical Research Foundation Academy of Athens (BRFAA) Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roubina","family":"Antonelou","sequence":"additional","affiliation":[{"name":"Second Department of Neurology, \u201cAttikon\u201d University Hospital, Medical School National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Miligkos","sequence":"additional","affiliation":[{"name":"Laboratory of Biomathematics School of Medicine University of Thessaly Larissa Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matina","family":"Maniati","sequence":"additional","affiliation":[{"name":"Biomedical Research Foundation Academy of Athens (BRFAA) Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Papagiannakis","sequence":"additional","affiliation":[{"name":"Biomedical Research Foundation Academy of Athens (BRFAA) Athens Greece"},{"name":"Second Department of Neurology, \u201cAttikon\u201d University Hospital, Medical School National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevasti","family":"Bostantjopoulou","sequence":"additional","affiliation":[{"name":"Third University Department of Neurology of the Aristotle University of Thessaloniki  Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athannassios","family":"Leonardos","sequence":"additional","affiliation":[{"name":"Second Department of Neurology, \u201cAttikon\u201d University Hospital, Medical School National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Koros","sequence":"additional","affiliation":[{"name":"Second Department of Neurology, \u201cAttikon\u201d University Hospital, Medical School National and Kapodistrian University of Athens  Athens 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