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

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2024年10月24日

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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

摘要

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.