{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:28:40Z","timestamp":1791894520733,"version":"4.3.4"},"reference-count":53,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,7,30]],"date-time":"2023-07-30T00:00:00Z","timestamp":1690675200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"PPMI \u2013 a public-private partnership \u2013 is funded by the Michael J. Fox Foundation for Parkinson\u2019s Research funding partners 4D Pharma, Abbvie, Acurex Therapeutics, Allergan, Amathus Thera-peutics, ASAP, Avid Radiopharmaceuticals, Bial Biotech, Biogen, BioL","award":["1"],"award-info":[{"award-number":["1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Patients with Parkinson\u2019s Disease (PD) experience REM sleep behavior disorder (RBD) more frequently than healthy controls. RBD is associated with torpid disease evolution. To test the hypothesis that differential genetic signatures might contribute to the torpid disease evolution in PD patients with RBD we compared the rate of genetic mutations in PD patients with or without probable RBD. Patients with a clinical diagnosis of PD in the Parkinson\u2019s Progression Markers Initiative (PPMI) database entered the study. We excluded those with missing data, dementia, psychiatric conditions, or a diagnosis change over the first five years from the initial PD diagnosis. Probable RBD (pRBD) was confirmed by a REM Sleep Behavior Disorder Screening Questionnaire score &gt; 5 points. Logistic regression and Machine Learning (ML) algorithms were used to relate Single Nucleotide Polymorphism (SNPs) in PD-related genes with pRBD. We included 330 PD patients fulfilling all inclusion and exclusion criteria. The final logistic multivariate model revealed that the following SNPs increased the risk of pRBD: GBA_N370S_rs76763715 (OR, 95% CI: 3.38, 1.45\u20137.93), SNCA_A53T_rs104893877 (8.21, 2.26\u201336.34), ANK2. CAMK2D_rs78738012 (2.12, 1.08\u20134.10), and ZNF184_rs9468199 (1.89, 1.08\u20133.33). Conversely, SNP COQ7. SYT17_rs11343 reduced pRBD risk (0.36, 0.15\u20130.78). The ML algorithms led to similar results. The predictive models were highly specific (95\u201399%) but lacked sensitivity (9\u201339%). We found a distinctive genetic signature for pRBD in PD. The high specificity and low sensitivity of the predictive models suggest that genetic mutations are necessary but not sufficient to develop pRBD in PD. Additional investigations are needed.<\/jats:p>","DOI":"10.3390\/brainsci13081146","type":"journal-article","created":{"date-parts":[[2023,7,31]],"date-time":"2023-07-31T01:26:40Z","timestamp":1690766800000},"page":"1146","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The Genetic Basis of Probable REM Sleep Behavior Disorder in Parkinson\u2019s Disease"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9069-6512","authenticated-orcid":false,"given":"Santiago","family":"Perez-Lloret","sequence":"first","affiliation":[{"name":"Observatorio de Salud P\u00fablica, Vicerrectorado de Investigaci\u00f3n e Innovaci\u00f3n Acad\u00e9mica, Pontificia Universidad Cat\u00f3lica Argentina (UCA), Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas (UCA-CONICET), Buenos Aires C1107AAZ, Argentina"},{"name":"Centro de Investigaciones en Psicolog\u00eda y Psicopedagog\u00eda (CIPP), Facultad de Psicolog\u00eda y Psicopedagog\u00eda, Pontificia Universidad Cat\u00f3lica Argentina (UCA), Buenos Aires C1107AFB, Argentina"},{"name":"Departamento de Fisiolog\u00eda, Facultad de Medicina, Universidad de Buenos Aires (UBA), Buenos Aires C1053ABH, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guenson","family":"Chevalier","sequence":"additional","affiliation":[{"name":"Centro de Altos Estudios en Ciencias Humanas y de la Salud, Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas, CAECIHS.UAI-CONICET, Buenos Aires C1270AAH, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Bordet","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones en Psicolog\u00eda y Psicopedagog\u00eda (CIPP), Facultad de Psicolog\u00eda y Psicopedagog\u00eda, Pontificia Universidad Cat\u00f3lica Argentina (UCA), Buenos Aires C1107AFB, Argentina"},{"name":"Centro de Altos Estudios en Ciencias Humanas y de la Salud, Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas, CAECIHS.UAI-CONICET, Buenos Aires C1270AAH, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanny","family":"Barbar","sequence":"additional","affiliation":[{"name":"Centro de Altos Estudios en Ciencias Humanas y de la Salud, Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas, CAECIHS.UAI-CONICET, Buenos Aires C1270AAH, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Capani","sequence":"additional","affiliation":[{"name":"Centro de Altos Estudios en Ciencias Humanas y de la Salud, Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas, CAECIHS.UAI-CONICET, Buenos Aires C1270AAH, Argentina"},{"name":"Instituto de Ciencias Biom\u00e9dicas, Facultad de Ciencias de la Salud, Universidad Aut\u00f3noma de Chile, Santiago 7500912, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Udovin","sequence":"additional","affiliation":[{"name":"Centro de Altos Estudios en Ciencias Humanas y de la Salud, Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas, CAECIHS.UAI-CONICET, Buenos Aires C1270AAH, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Otero-Losada","sequence":"additional","affiliation":[{"name":"Centro de Altos Estudios en Ciencias Humanas y de la Salud, Universidad Abierta Interamericana, Consejo Nacional de Investigaciones Cient\u00edficas y T\u00e9cnicas, CAECIHS.UAI-CONICET, Buenos Aires C1270AAH, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,7,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1212\/01.wnl.0000247740.47667.03","article-title":"Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030","volume":"68","author":"Dorsey","year":"2007","journal-title":"Neurology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1002\/mds.27360","article-title":"Disease Modification in Parkinson\u2019s Disease: Current Approaches, Challenges, and Future Considerations","volume":"33","author":"Lang","year":"2018","journal-title":"Mov. 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