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. 2024 Oct 24;10(1):198.
doi: 10.1038/s41531-024-00820-0.

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

Stefanie Lerche  1   2 , Isabel Wurster  1   2   3 , Enza Maria Valente  4   5 , Micol Avenali  5   6 , Daniela Samaniego  7 , Marta Martínez-Vicente  7 , Jorge Hernández-Vara  7 , Ariadna Laguna  7   8 , Andrea Sturchio  9 , Per Svenningsson  9 , Nicholas P France  10 , Carrolee Barlow  10 , Sethu Sankaranarayanan  10 , Kathrin Brockmann  11   12
Affiliations

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

Stefanie Lerche et al. NPJ Parkinsons Dis. .

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.

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Conflict of interest statement

Authors S.S., N.P.F., and C.B. were employees of ESCAPE Bio at the time this work was performed. The remaining authors declare that the research was conducted in the absence of any commercial, financial, or non-financial relationships that relate to a potential conflict of interest.

Figures

Fig. 1
Fig. 1. CSF levels of sphingolipids stratified by GBA1 genotype and disease group.
DLBGBA_WT patients had lower levels of ceramide than HC, PDGBA_WT, and PDGBA patients (A). PDGaucher patients had higher levels of glucosylsphingosine than HC, PDGBA_WT, PDGBA, DLBGBA_WT, and DLBGBA (C). DLBGBA_WT and DLBGBA patients had lower levels of galactosylsphingosine than HC (D). There is no difference in levels of glucosylceramide and sphingomyelin between the patient groups (B + E). The red line indicates median levels of healthy controls, respectively. *p < 0.05; **p < 0.01;***p < 0.001.
See this image and copyright information in PMC

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