Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Phenotypic Differences among Recently Diagnosed Drug-Naïve Patients with Parkinson’s Disease with or without SNCA Polymorphisms

Santiago Pérez-Lloret
* ORCID logo ,
Alejandro Enet
,
Guenson Chevalier
,
Sofia Bordet
,
Hanny Barbar
,
Francisco Capani
,
Lucas Udovin
,
Matilde Otero-Losada
,
Francisco Barrantes
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. 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. Preprints 2023, 2023071417. 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.

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