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Fig. 1 | Journal of Neuroinflammation

Fig. 1

From: Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson’s disease

Fig. 1

Time and glycosphingolipid dose-dependent phenotypic disease expressions. GBA1 homozygous or compound heterozygous mutations cause Gaucher disease with onset in early life. Such mutations cause major reductions in glucocerebrosidase (GCase) enzymatic activity and massive accumulation of sphingolipid substrates (glucosylceramide and glucosylsphingosine), typically leading to fatal organ failures particularly of the liver and spleen. In the case of Parkinson’s disease (PD), with or without heterozygous GBA1 mutations, disease prevalence is in late life (above age 65) and approaches 1–3% of the population. In PD, GCase activity is typically reduced by ~ 50% in the brain and blood with a moderate elevation of glycosphingolipids. Data from post-mortem human brain tissue and in mouse brain also shows that GCase activity is gradually decreased in the brain during normal aging at levels that mirrors genetic GCase haploinsufficiency. Presumably, this contributes to increased risk in all humans with age for PD

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