2. Academic Validation
  3. CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

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

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

Affiliations

  • 1 Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
  • 2 German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany.
  • 3 Edmond J. Safra Fellow in Movement Disorders, New York, NY, USA.
  • 4 Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • 5 IRCCS Mondino Foundation, Pavia, Italy.
  • 6 Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.
  • 7 Neurodegenerative Diseases Research Group, Vall d'Hebron Research Institute (VHIR)-Network center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), Barcelona, Spain.
  • 8 Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA.
  • 9 Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.
  • 10 ESCAPE Bio, South San Francisco, CA, USA.
  • 11 Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany. kathrin.brockmann@uni-tuebingen.de.
  • 12 German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany. kathrin.brockmann@uni-tuebingen.de.
PMID: 39448669 DOI: 10.1038/s41531-024-00820-0
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.

Figures
Products