{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T15:25:46Z","timestamp":1789226746781,"version":"build-2803163510"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation for Parkinson's Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and objectives<\/jats:title>\n                    <jats:p>\n                      The phenotype of p.A53T-\u03b1-synuclein (\n                      <jats:italic>SNCA<\/jats:italic>\n                      ) mutation carriers with Parkinson\u2019s disease (A53T-PD) appears more severe compared to idiopathic PD (iPD), however, information is limited. Here we conducted a comprehensive longitudinal study to investigate the progression of motor and nonmotor features of \u039153\u03a4-PD compared to iPD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Detailed longitudinal 3-year data, concerning both motor and non-motor features, of 16 p.A53T-PD and 48 iPD, matched for age (51\u201353\u00a0years) and disease duration (approximately 4\u00a0years) at baseline, were downloaded from the Parkinson's Progression Markers Initiative (PPMI) database and compared between the two groups. Additionally, a cognitive composite score was generated by five cognitive tests, focused more on executive\/visuospatial function.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>At baseline, global cognitive function, as assessed by the Montreal Cognitive Assessment (MOCA), was not significantly different between the two groups, in contrast to tests evaluating executive\/visuospatial function, including the composite score, which were worse in A53T-PD. There was a significant decline over time in all neuropsychological tests in A53T-PD, while iPD remained stable. A similar pattern was revealed for motor status and function, as well as autonomic function, which were similar between the two groups at baseline, but deteriorated significantly only in A53T-PD over time.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>A53T-PD patients present an accelerated decline in both motor and non-motor parameters, with an impairment in executive-visuospatial function occurring early in the disease process. Such data may set the stage for targeted disease-modifying therapies in this particular subtype, while generated data may be widely applicable to iPD, which is largely a sporadic synucleinopathy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00415-024-12836-w","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T20:05:11Z","timestamp":1739304311000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Motor and nonmotor features of p.A53T alpha-synuclein PD vs idiopathic PD: longitudinal data from the PPMI study"],"prefix":"10.1007","volume":"272","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7130-6256","authenticated-orcid":false,"given":"Athina Maria","family":"Simitsi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evangelos","family":"Sfikas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Koros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolaos","family":"Papagiannakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ion","family":"Beratis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitra","family":"Papadimitriou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roubina","family":"Antonellou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Styliani","family":"Fragiadaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dionysia","family":"Kontaxopoulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Picillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioanna","family":"Pachi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioanna","family":"Alefanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Stamelou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Barone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonidas","family":"Stefanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,2,12]]},"reference":[{"key":"12836_CR1","doi-asserted-by":"publisher","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","volume":"276","author":"MH Polymeropoulos","year":"1997","unstructured":"Polymeropoulos MH (1997) Mutation in the \u03b1-synuclein gene identified in families with Parkinson\u2019s disease. Science 276:2045\u20132047","journal-title":"Science"},{"key":"12836_CR2","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/B978-0-12-815950-7.00002-3","volume-title":"Genetics, neurology, behavior, and diet in parkinson\u2019s disease","author":"AM Simitsi","year":"2020","unstructured":"Simitsi AM, Koros C, Stefanis L (2020) Chapter 2: alpha-synuclein gene and Parkinson\u2019s disease. In: Martin CR, Preedy VR (eds) Genetics, neurology, behavior, and diet in parkinson\u2019s disease. Elsevier, Amsterdam, pp 19\u201334"},{"key":"12836_CR3","doi-asserted-by":"publisher","first-page":"1624","DOI":"10.1002\/mds.28534","volume":"36","author":"H Liu","year":"2021","unstructured":"Liu H, Koros C, Stroh\u00e4ker T, Schulte C et al (2021) A novel SNCA A30G mutation causes familial Parkinson\u2019s disease. 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Trends Biotechnol 42:829\u2013841","journal-title":"Trends Biotechnol"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12836-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00415-024-12836-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00415-024-12836-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,17]],"date-time":"2025-03-17T13:42:07Z","timestamp":1742218927000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00415-024-12836-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,12]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["12836"],"URL":"https:\/\/doi.org\/10.1007\/s00415-024-12836-w","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.08.23.24312442","asserted-by":"object"}]},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,12]]},"assertion":[{"value":"11 November 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The author(s) would like to disclose the following: Athina Maria Simitsi received funding from the Michael J Fox Foundation for her participation in PPMI; Evangelos Sfikas has no disclosures; Christos Koros received funding from the Michael J Fox Foundation for his participation in PPMI; Nikolaos Papagiannakis received funding from the Michael J Fox Foundation for his participation in PPMI; Ion Beratis received funding from the Michael J Fox Foundation for his participation in PPMI; Dimitra Papadimitriou has no disclosures; Roubina Antonelou received funding from by the National Network for Research of Neurodegenerative Diseases on the basis of Medical Precision (Grant 2018E01300001), funded by the General Secretariat of Research and Innovation (GSRI), and by Brain Precision(TAEDR-0535850), funded by the GSRI, through funds provided by the European Union (Next Generation EU)to the National Recovery and Resilience Plan; Stella Fragkiadaki received funding from the Michael J Fox Foundation for her participation in PPMI; Dionysia Kontaxopoulou received funding from the Michael J Fox Foundation for her participation in PPMI; Marina Picillo received funding from the Italian Ministry of Health, the Italian Ministry of University and Fondazione della Societ\u00e0 Italiana di Neurologia; Ioanna Pachi has no disclosures; Ioanna Alefanti has no disclosures; Maria Stamelou has no disclosures; Paolo Barone Prof Paolo Barone received consultancies as a member of the advisory board for Zambon, Lundbeck, UCB, Chiesi, Abbvie and Acorda; Leonidas Stefanis over the past year has received the following grants: PPMI2(supported by the Michael J. Fox Foundation), IMPRIND-IMI2 Number 116060 (EU, H2020), \"Transferring autonomous and non-autonomous cell degeneration 3D models between EU and USA for development of effective therapies for neurodegenerative diseases (ND)\u2014CROSS NEUROD\" (H2020-EU 1.3.3., GrantNumber778003), \u00abChaperone-Mediated Autophagy in Neurodegeneration\u00bb (Hellenic Foundation for Research and Innovation Grant HFRI-FM17-3013), \"ALAMEDA\" (H2020-EU, Grant Agreement 101017558),\"Next-generation antisense molecules for Parkinson's disease therapy (THERASYN)\" (Greek Secretariat of Research and Technology (GSRT), Collaborator), \"Brain Precision\" (GSRT), and \"CMA as a Means to Counteract alpha-Synuclein Pathology in Non-Human Primates\" (by the Michael J. Fox Foundation(Collaborator)). He has served on Advisory Boards for Abbvie, Innovis Pharma, ITF Hellas and Biogen and has received honoraria from ITF Hellas, Innovis Pharma and Abbvie.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"203"}}