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dc.contributor.authorPerez-Lloret, Santiago
dc.contributor.authorChevalier, Guenson
dc.contributor.authorBordet, Sofia
dc.contributor.authorBarbar, Hanny
dc.contributor.authorCapani, Francisco
dc.contributor.authorUdovin, Lucas
dc.contributor.authorOtero-Losada, Matilde
dc.date.accessioned2024-04-10T01:36:41Z
dc.date.available2024-04-10T01:36:41Z
dc.date.issued2023
dc.identifier10.3390/brainsci13081146
dc.identifier.issn20763425
dc.identifier.urihttps://hdl.handle.net/20.500.12728/10640
dc.description.abstractPatients with Parkinson’s 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’s 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 > 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, 1.45–7.93), SNCA_A53T_rs104893877 (8.21, 2.26–36.34), ANK2. CAMK2D_rs78738012 (2.12, 1.08–4.10), and ZNF184_rs9468199 (1.89, 1.08–3.33). Conversely, SNP COQ7. SYT17_rs11343 reduced pRBD risk (0.36, 0.15–0.78). The ML algorithms led to similar results. The predictive models were highly specific (95–99%) but lacked sensitivity (9–39%). 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. © 2023 by the authors.es_ES
dc.language.isoenes_ES
dc.publisherMultidisciplinary Digital Publishing Institute (MDPI)es_ES
dc.subjectParkinson’s diseasees_ES
dc.subjectpathophysiologyes_ES
dc.subjectPD-related variantses_ES
dc.subjectREM-sleep behavior disorderses_ES
dc.subjectsingle nucleotide polymorphismes_ES
dc.titleThe Genetic Basis of Probable REM Sleep Behavior Disorder in Parkinson’s Diseasees_ES
dc.typeArticlees_ES


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