CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

Stefanie Lerche; Isabel Wurster; Enza Maria Valente; Micol Avenali; Daniela Samaniego; Marta Martínez-Vicente; Jorge Hernández-Vara; Ariadna Laguna; Andrea Sturchio; Per Svenningsson; Nicholas P. France; Carrolee Barlow; Sethu Sankaranarayanan; Kathrin Brockmann

doi:10.1038/s41531-024-00820-0

npj Parkinson's Disease (Oct 2024)

CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

Stefanie Lerche,
Isabel Wurster,
Enza Maria Valente,
Micol Avenali,
Daniela Samaniego,
Marta Martínez-Vicente,
Jorge Hernández-Vara,
Ariadna Laguna,
Andrea Sturchio,
Per Svenningsson,
Nicholas P. France,
Carrolee Barlow,
Sethu Sankaranarayanan,
Kathrin Brockmann

Affiliations

Stefanie Lerche: Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen
Isabel Wurster: Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen
Enza Maria Valente: Department of Molecular Medicine, University of Pavia
Micol Avenali: IRCCS Mondino Foundation
Daniela Samaniego: Neurodegenerative Diseases Research Group, Vall d’Hebron Research Institute (VHIR)-Network center for Biomedical Research in Neurodegenerative Diseases (CIBERNED)
Marta Martínez-Vicente: Neurodegenerative Diseases Research Group, Vall d’Hebron Research Institute (VHIR)-Network center for Biomedical Research in Neurodegenerative Diseases (CIBERNED)
Jorge Hernández-Vara: Neurodegenerative Diseases Research Group, Vall d’Hebron Research Institute (VHIR)-Network center for Biomedical Research in Neurodegenerative Diseases (CIBERNED)
Ariadna Laguna: Neurodegenerative Diseases Research Group, Vall d’Hebron Research Institute (VHIR)-Network center for Biomedical Research in Neurodegenerative Diseases (CIBERNED)
Andrea Sturchio: Department of Clinical Neuroscience, Karolinska Institute
Per Svenningsson: Department of Clinical Neuroscience, Karolinska Institute
Nicholas P. France: ESCAPE Bio
Carrolee Barlow: ESCAPE Bio
Sethu Sankaranarayanan: ESCAPE Bio
Kathrin Brockmann: Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen

DOI: https://doi.org/10.1038/s41531-024-00820-0
Journal volume & issue: Vol. 10, no. 1
pp. 1 – 6

Abstract

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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.

Published in npj Parkinson's Disease

ISSN: 2373-8057 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Neurosciences. Biological psychiatry. Neuropsychiatry: Neurology. Diseases of the nervous system
Website: https://www.nature.com/npjparkd/

About the journal