dc.contributor
Institut Català de la Salut
dc.contributor
[Lerche S] Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany. [Wurster I] Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany. Edmond J. Safra Fellow in Movement Disorders, New York, NY, USA. [Valente EM] Department of Molecular Medicine, University of Pavia, Pavia, Italy. IRCCS Mondino Foundation, Pavia, Italy. [Samaniego D, Martínez-Vicente M, Hernández-Vara J] Grup de Recerca de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Network center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain. [Laguna A] Grup de Recerca de Malalties Neurodegeneratives, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Network center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain. Aligning Science Across Parkinson’s (ASAP) Collaborative Research Network, Chevy Chase, MD, USA
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Lerche, stefanie
dc.contributor.author
Wurster, Isabel
dc.contributor.author
Valente, Enza Maria
dc.contributor.author
Avenali, Micol
dc.contributor.author
Samaniego Toro, Daniela
dc.contributor.author
Laguna Tuset, Ariadna
dc.contributor.author
HERNANDEZ-VARA, JORGE
dc.date.accessioned
2025-10-24T08:54:16Z
dc.date.available
2025-10-24T08:54:16Z
dc.date.issued
2024-12-27T09:37:18Z
dc.date.issued
2024-12-27T09:37:18Z
dc.date.issued
2024-10-24
dc.identifier
Lerche S, Wurster I, Valente EM, Avenali M, Samaniego D, Martínez-Vicente M, et al. CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants. npj Park Dis. 2024 Oct 24;10:198.
dc.identifier
https://hdl.handle.net/11351/12354
dc.identifier
10.1038/s41531-024-00820-0
dc.identifier
001340649400003
dc.identifier.uri
http://hdl.handle.net/11351/12354
dc.description.abstract
Sphingolipid; Parkinson disease; Dementia with Lewy bodies
dc.description.abstract
Esfingolípidos; Enfermedad de Parkinson; Demencia con cuerpos de Lewy
dc.description.abstract
Esfingolípids; Malaltia de Parkinson; Demència amb cossos de Lewy
dc.description.abstract
Variants in GBA1 result in dysregulated sphingolipids. We investigated five CSF d18:1 sphingolipid species in a longitudinal multicenter cohort comprising people with Parkinson’s Disease and Dementia with Lewy bodies with and without GBA1 variants and healthy controls. We found no increase of sphingolipid species in heterozygous GBA1 variant participants and no effect on development of cognitive impairment. Thus, CSF d18:1 sphingolipids are not suitable as state markers in Parkinson’s Disease.
dc.description.abstract
Open Access funding enabled and organized by Projekt DEAL.
dc.format
application/pdf
dc.publisher
Nature Portfolio
dc.relation
npj Parkinson's Disease;10
dc.relation
https://doi.org/10.1038/s41531-024-00820-0
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Parkinson, Malaltia de - Aspectes genètics
dc.subject
Demència amb cossos de Lewy - Aspectes genètics
dc.subject
Anomalies cromosòmiques
dc.subject
CHEMICALS AND DRUGS::Lipids::Membrane Lipids::Sphingolipids
dc.subject
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease
dc.subject
DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease
dc.subject
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
dc.subject
COMPUESTOS QUÍMICOS Y DROGAS::lípidos::lípidos de membranas::esfingolípidos
dc.subject
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad con cuerpos de Lewy
dc.subject
ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson
dc.subject
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
dc.title
CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
