CSF Sphingolipids in Parkinson Disease and Dementia with Lewy Bodies with and without GBA1 variants

Author:

Brockmann Kathrin1ORCID,Lerche Stefanie2,Wurster Isabel3,Valente Enza Maria4ORCID,Avenali Micol4,Samaniego Daniela5,Martinez-Vicente Marta6ORCID,Hernandez-Vara Jorge7,Laguna Ariadna8ORCID,Sturchio Andrea9ORCID,Svenningsson Per10ORCID,France Nicholas11,Barlow Carrolee12,Sankaranarayanan Sethu11

Affiliation:

1. University of Tuebingen

2. Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen

3. Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tübingen

4. University of Pavia

5. Neurodegenerative Diseases Research Group, Vall d'Hebron Research Institute (VHIR)-

6. ​Vall d'Hebron Research Institute (VHIR)

7. Neurodegenerative Diseases Research Group, Vall d'Hebron Research Institute (VHIR)

8. Vall d'Hebron Research Institute

9. Karolinska Institute

10. Karolinska Institutet and Karolinska University Hospital

11. ESCAPE Bio

12. Former Escape Bio employee

Abstract

Abstract

Variants in GBA1 result in dysregulated sphingolipids. We investigated five CSF sphingolipid species in a 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 carriers. Sphingolipid levels had no effect on development of cognitive impairment. Thereby, CSF Sphingolipids seem not useful as state marker in Parkinson’s Disease.

Publisher

Springer Science and Business Media LLC

Reference13 articles.

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3. Gaucher disease glucocerebrosidase and alpha-synuclein form a bidirectional pathogenic loop in synucleinopathies;Mazzulli JR;Cell,2011

4. The Mutation Matters: CSF Profiles of GCase, Sphingolipids, alpha-Synuclein in PD(GBA);Lerche S;Mov Disord,2021

5. Glucosylsphingosine Promotes alpha-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease;Taguchi YV;J Neurosci,2017

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