Version 1
: Received: 20 July 2023 / Approved: 20 July 2023 / Online: 20 July 2023 (12:46:20 CEST)
How to cite:
Pérez-Lloret, S.; Enet, A.; Chevalier, G.; Bordet, S.; Barbar, H.; Capani, F.; Udovin, L.; Otero-Losada, M.; Barrantes, F. Phenotypic Differences among Recently Diagnosed Drug-Naïve Patients with Parkinson’s Disease with or without SNCA Polymorphisms. Preprints2023, 2023071417. https://doi.org/10.20944/preprints202307.1417.v1
Pérez-Lloret, S.; Enet, A.; Chevalier, G.; Bordet, S.; Barbar, H.; Capani, F.; Udovin, L.; Otero-Losada, M.; Barrantes, F. Phenotypic Differences among Recently Diagnosed Drug-Naïve Patients with Parkinson’s Disease with or without SNCA Polymorphisms. Preprints 2023, 2023071417. https://doi.org/10.20944/preprints202307.1417.v1
Pérez-Lloret, S.; Enet, A.; Chevalier, G.; Bordet, S.; Barbar, H.; Capani, F.; Udovin, L.; Otero-Losada, M.; Barrantes, F. Phenotypic Differences among Recently Diagnosed Drug-Naïve Patients with Parkinson’s Disease with or without SNCA Polymorphisms. Preprints2023, 2023071417. https://doi.org/10.20944/preprints202307.1417.v1
APA Style
Pérez-Lloret, S., Enet, A., Chevalier, G., Bordet, S., Barbar, H., Capani, F., Udovin, L., Otero-Losada, M., & Barrantes, F. (2023). Phenotypic Differences among Recently Diagnosed Drug-Naïve Patients with Parkinson’s Disease with or without SNCA Polymorphisms. Preprints. https://doi.org/10.20944/preprints202307.1417.v1
Chicago/Turabian Style
Pérez-Lloret, S., Matilde Otero-Losada and Francisco Barrantes. 2023 "Phenotypic Differences among Recently Diagnosed Drug-Naïve Patients with Parkinson’s Disease with or without SNCA Polymorphisms" Preprints. https://doi.org/10.20944/preprints202307.1417.v1
Abstract
Some studies show that patients with mutations in the SNCA gene, which codifies for the alpha-synuclein protein, show a particular phenotype. The effects of SNCA Single Nucleotide Polymorphism (SNPs) in recently diagnosed, drug-naïve patients with PD have been less explored. Therefore, we set out to explore the differences in the clinical characteristics of recently diagnosed drug-naïve sporadic PD patients with or without SNCA rs3910105 or rs356181 SNPs. 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, a diagnosis change over the first five years from the initial PD diagnosis, or with a familial history of PD. Subjects were evaluated with the MDS-Unified PD Rating Scale (MDS-UPDRS), DAT imaging, the Geriatric Depression Scale (GDS), the State-Trait Anxiety Inventory (STAI), the Montreal Cognitive Assessment (MoCA), the SCOPA-AUT for autonomic function, the Epworth Sleepiness Scale (ESS), the RBD Questionnaire, and the University of Pennsylvania Smell Identification Test (UPSIT). We included 308 PD patients fulfilling all inclusion and exclusion criteria. A logistic regression analysis and Machine-Learning models did not disclose any difference between patients either with or without the SNCA rs3910105 SNP or with or without the SNCA rs3910105 polymorphism. Our results suggest that the SNCA polymorphisms rs3910105 and rs356181 have no impact on the phenotype of idiopathic, sporadic, recently diagnosed, drug naïve PD patients.
Keywords
single nucleotide polymorphism; Parkinson’s disease; alpha-synuclein; phenotype, pathophysiology; PD-related variants
Subject
Medicine and Pharmacology, Neuroscience and Neurology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.