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.authorTeresa Caceres-Redondo, Maria
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.authoraffiliation[Jesus, Silvia] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Huertas, Ismael] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Bernal-Bernal, Inmaculada] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Bonilla-Toribio, Marta] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Teresa Caceres-Redondo, Maria] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Vargas-Gonzalez, Laura] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Gomez-Llamas, Myriam] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Carrillo, Fatima] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Carballo, Manuel] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Gomez-Garre, Pilar] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Mir, Pablo] Univ Seville, Unidad Trastornos Movimiento, Hosp Univ Virgen del Rocio,CSIC, Serv Neurol & Neurofisiol Clin,Inst Biomed Sevill, Seville, Spain
dc.contributor.authoraffiliation[Calderon, Enrique] Univ Seville, Serv Med Interne, Inst Biomed Sevilla, Hosp Univ Virgen del Rocio,CSIC, Seville, Spain
dc.contributor.authoraffiliation[Calderon, Enrique] Ctr Invest Biomed Red Epidemiol & Salud Publ CIBE, Madrid, Spain
dc.contributor.authoraffiliation[Gomez-Garre, Pilar] Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
dc.contributor.authoraffiliation[Mir, Pablo] Ctr Invest Biomed Red Enfermedades Neurodegenerat, Madrid, Spain
dc.contributor.funderMinisterio de Economia y Competitividad de Espana
dc.contributor.funderInstituto de Salud Carlos III
dc.contributor.funderConsejeria de Economia, Innovacion, Ciencia y Empleo de la Junta de Andalucia
dc.contributor.funderConsejeria deIgualdad, Salud y Politicas Sociales de la Junta de Andalucia
dc.contributor.funderSociedad Andaluza de Neurologia
dc.contributor.funderJacques and Gloria Gossweiler Foundation
dc.contributor.funderFundacion Alicia Koplowitz
dc.contributor.funderFundacion Mutua Madrilena
dc.contributor.funderInstituto de Salud Carlos III
dc.date.accessioned2023-02-12T02:22:22Z
dc.date.available2023-02-12T02:22:22Z
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.identifier.doi10.1371/journal.pone.0167749
dc.identifier.issn1932-6203
dc.identifier.unpaywallURLhttps://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0167749&type=printable
dc.identifier.urihttp://hdl.handle.net/10668/19168
dc.identifier.wosID391222000020
dc.issue.number12
dc.journal.titlePlos one
dc.journal.titleabbreviationPlos one
dc.language.isoen
dc.organizationInstituto de Biomedicina de Sevilla-IBIS
dc.organizationHospital Universitario Virgen del Rocío
dc.publisherPublic library science
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectGlucocerebrosidase mutations
dc.subjectDementia
dc.subjectComplications
dc.subjectConfer
dc.subjectRisk
dc.subjectGene
dc.titleGBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number11
dc.wostypeArticle
dspace.entity.typePublication
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