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Plasma O ligomeric A lpha‐ S ynuclein I s A ssociated W ith G lucocerebrosidase A ctivity in G aucher D isease
Author(s) -
Nuzhnyi Evgenii,
Emelyanov Anton,
Boukina Tatyana,
Usenko Tatiana,
Yakimovskii Andrey,
Zakharova Ekaterina,
Pchelina Sofya
Publication year - 2015
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.26200
Subject(s) - chemistry
Background The link between Parkinson's disease (PD) and Gaucher disease (GD), the most common lysosomal storage disease associated with loss of glucocerebrosidase (GBA) activity, can be explained by abnormal accumulation of oligomeric alpha‐synuclein (α‐Syn) species resulting from mutations in the GBA gene. However, in GD, the relationship between GBA activity and α‐Syn accumulation in biological fluids has not been investigated. Methods We analyzed plasma oligomeric α‐Syn levels, leucocyte GBA activity, and plasma chitotriosidase activity in 21 patients with GD. Results Negative correlation between plasma oligomeric α‐Syn levels, and leucocyte GBA activity was observed in patients with GD ( R 2  = 0.487; P  < 0.001). Conclusion The decrease in GBA activity may influence α‐Syn oligomerization, explaining the high risk of PD development in GD patients. © 2015 International Parkinson and Movement Disorder Society

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