Lerche Stefanie, Wurster Isabel, Valente Enza Maria, Avenali Micol, Samaniego Daniela, Martínez-Vicente Marta, Hernández-Vara Jorge, Laguna Ariadna, Sturchio Andrea, Svenningsson Per, France Nicholas P, Barlow Carrolee, Sankaranarayanan Sethu, Brockmann Kathrin
Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
German Center for Neurodegenerative Diseases, University of Tuebingen, Tuebingen, Germany.
NPJ Parkinsons Dis. 2024 Oct 24;10(1):198. doi: 10.1038/s41531-024-00820-0.
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.
GBA1基因的变异会导致鞘脂调节异常。我们在一个纵向多中心队列中研究了五种脑脊液d18:1鞘脂种类，该队列包括患有帕金森病和路易体痴呆的患者（有和没有GBA1基因变异）以及健康对照者。我们发现，携带GBA1基因变异杂合子的参与者中鞘脂种类没有增加，且对认知障碍的发展没有影响。因此，脑脊液d18:1鞘脂不适合作为帕金森病的状态标志物。
