Sistema de Salut de Catalunya
Institut Català de la Salut
[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
Vall d'Hebron Barcelona Hospital Campus
2024-12-27T09:37:18Z
2024-12-27T09:37:18Z
2024-10-24
Sphingolipid; Parkinson disease; Dementia with Lewy bodies
Esfingolípidos; Enfermedad de Parkinson; Demencia con cuerpos de Lewy
Esfingolípids; Malaltia de Parkinson; Demència amb cossos de Lewy
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.
Open Access funding enabled and organized by Projekt DEAL.
Article
Versió publicada
Anglès
Parkinson, Malaltia de - Aspectes genètics; Demència amb cossos de Lewy - Aspectes genètics; Anomalies cromosòmiques; Esfingolípids; CHEMICALS AND DRUGS::Lipids::Membrane Lipids::Sphingolipids; DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease; DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Parkinsonian Disorders::Parkinson Disease; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation; COMPUESTOS QUÍMICOS Y DROGAS::lípidos::lípidos de membranas::esfingolípidos; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad con cuerpos de Lewy; ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::trastornos parkinsonianos::enfermedad de Parkinson; FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
Nature Portfolio
npj Parkinson's Disease;10
https://doi.org/10.1038/s41531-024-00820-0
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
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