Publication:
GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.

dc.contributor.authorJesus, Silvia
dc.contributor.authorHuertas, Ismael
dc.contributor.authorBernal-Bernal, Inmaculada
dc.contributor.authorBonilla-Toribio, Marta
dc.contributor.authorCaceres-Redondo, Maria Teresa
dc.contributor.authorVargas-Gonzalez, Laura
dc.contributor.authorGomez-Llamas, Myriam
dc.contributor.authorCarrillo, Fatima
dc.contributor.authorCalderon, Enrique
dc.contributor.authorCarballo, Manuel
dc.contributor.authorGomez-Garre, Pilar
dc.contributor.authorMir, Pablo
dc.contributor.funderMinisterio de Economía y Competitividad de España
dc.contributor.funderConsejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía
dc.contributor.funderConsejería deIgualdad, Salud y Políticas Sociales de la Junta de Andalucía
dc.date.accessioned2023-01-25T09:42:47Z
dc.date.available2023-01-25T09:42:47Z
dc.date.issued2016-12-28
dc.description.abstractThe presence of mutations in glucocerebrosidase (GBA) gene is a known factor increasing the risk of developing Parkinson's disease (PD). Mutations carriers have earlier disease onset and are more likely to develop neuropsychiatric symptoms than other sporadic PD cases. These symptoms have primarily been observed in Parkinson's patients carrying the most common pathogenic mutations L444P and N370S. However, recent findings suggest that other variants across the gene may have a different impact on the phenotype as well as on the disease progression. We aimed to explore the influence of variants across GBA gene on the clinical features and treatment related complications in PD. In this study, we screened the GBA gene in a cohort of 532 well-characterised PD patients and 542 controls from southern Spain. The potential pathogeniticy of the identified variants was assessed using in-silico analysis and subsequently classified as benign or deleterious. As a result, we observed a higher frequency of GBA variants in PD patients (12.2% vs. 7.9% in controls, p = 0.021), earlier mean age at disease onset in GBA variant carriers (50.6 vs. 56.6 years; p = 0.013), as well as more prevalent motor and non-motor symptoms in patients carrying deleterious variants. In addition, we found that dopaminergic motor complications are influenced by both benign and deleterious variants. Our results highlight the fact that the impact on the phenotype highly depends on the potential pathogenicity of the carried variants. Therefore, the course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants.
dc.description.versionSi
dc.identifier.citationJesús S, Huertas I, Bernal-Bernal I, Bonilla-Toribio M, Cáceres-Redondo MT, Vargas-González L, et al. GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease. PLoS One. 2016 Dec 28;11(12):e0167749.
dc.identifier.doi10.1371/journal.pone.0167749
dc.identifier.essn1932-6203
dc.identifier.pmcPMC5193380
dc.identifier.pmid28030538
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193380/pdf
dc.identifier.unpaywallURLhttps://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0167749&type=printable
dc.identifier.urihttp://hdl.handle.net/10668/10720
dc.issue.number12
dc.journal.titlePloS one
dc.journal.titleabbreviationPLoS One
dc.language.isoen
dc.organizationIBIS
dc.page.number17
dc.provenanceRealizada la curación de contenido 21/05/2025.
dc.publisherPublic Library of Science
dc.pubmedtypeJournal Article
dc.relation.projectIDSAF2007-60700
dc.relation.projectIDInstituto de Salud Carlos III
dc.relation.projectIDPI10/01674
dc.relation.projectIDPI13/01461
dc.relation.projectIDPI14/01823
dc.relation.projectIDCVI-02526
dc.relation.projectIDCTS-7685
dc.relation.projectIDPI-0377/2007
dc.relation.projectIDPI-0741/2010
dc.relation.projectIDPI-0437-2012
dc.relation.projectIDPI-0471-2013
dc.relation.publisherversionhttps://dx.plos.org/10.1371/journal.pone.0167749
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectCognition
dc.subjectDyskinesias
dc.subjectHallucinations
dc.subjectMutation
dc.subjectMale
dc.subject.decsPacientes
dc.subject.decsMutación
dc.subject.decsFenotipo
dc.subject.decsRiesgo
dc.subject.decsEnfermedad de Parkinson
dc.subject.decsGlucosilceramidasa
dc.subject.decsVirulencia
dc.subject.meshAged
dc.subject.meshExons
dc.subject.meshFemale
dc.subject.meshGlucosylceramidase
dc.subject.meshHumans
dc.subject.meshMiddle Aged
dc.subject.meshMotor Activity
dc.subject.meshMultivariate Analysis
dc.subject.meshParkinson Disease
dc.titleGBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number11
dspace.entity.typePublication

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