{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T05:22:13Z","timestamp":1791264133650,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,5,14]],"date-time":"2013-05-14T00:00:00Z","timestamp":1368489600000},"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":[[2013,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Since the first description of alpha\u2010synuclein (<jats:italic>SNCA<\/jats:italic>) mutations in 1997, this gene has probably become the most intensely investigated one associated with monogenic Parkinson disease (PD). Prompted by the finding of a novel SNCA mutation, H50Q, we systematically explored the 145 published SNCA mutation carriers for a possible mutation (type)\u2010specific clinical expression, which appears to be rather unique to <jats:italic>SNCA<\/jats:italic> mutations compared with other PD genes. The A53T mutation is associated with an approximately 10\u2010year earlier age at onset than the other 3 known missense mutations, including the new H50Q mutation. Similarly, <jats:italic>SNCA<\/jats:italic> triplication carriers have an approximately 10\u2010year earlier onset and a more rapid disease course than duplication carriers, who, overall closely resemble patients with idiopathic PD. Furthermore, higher order SNCA multiplications are associated with additional neurologic features, such as myoclonus. For the nonmotor features, their mere frequency appears less striking than their severity, with an early age of onset of depression or dementia, suicidal ideation, and multimodal hallucinations. We conclude that, (1) although <jats:italic>SNCA<\/jats:italic> mutations are a rare cause of PD, it remains worth testing for new mutations in this gene; (2) a differential view of SNCA mutations and variants may allow important pathophysiologic inferences even beyond monogenic PD and is warranted in the context of clinical counseling. \u00a9 2013 <jats:italic>Movement<\/jats:italic> Disorder Society<\/jats:p>","DOI":"10.1002\/mds.25499","type":"journal-article","created":{"date-parts":[[2013,5,14]],"date-time":"2013-05-14T09:18:24Z","timestamp":1368523104000},"page":"697-701","source":"Crossref","is-referenced-by-count":146,"title":["The many faces of alpha\u2010synuclein mutations"],"prefix":"10.1002","volume":"28","author":[{"given":"Meike","family":"Kasten","sequence":"first","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck L\u00fcbeck Germany"},{"name":"Department of Psychiatry and Psychotherapy University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Klein","sequence":"additional","affiliation":[{"name":"Institute of Neurogenetics, University of L\u00fcbeck L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,14]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5321.2045"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.67"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25421"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31828727ba"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3283547627"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.63.9.1250"},{"key":"e_1_2_4_8_1","article-title":"Next generation phenotyping using the parkin example: time to catch up with 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