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. 2021 Oct 30;9:175. doi: 10.1186/s40478-021-01276-6

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© The Author(s) 2021

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — RT-QuIC positive replicates relative fluorescence curves at 30 h stratified by diagnosis and mutation status. A Remarkable differences in RT-QuIC α-Syn seeding profiles were detected in the PD patients’ group when stratifying by PD-associated mutations. While 93% of PD_{GBA_severe} showed a positive RT-QuIC α-Syn seeding profile, 78% of PD_LRRK2 and only 59% of PD_{recessive _heterozygous} gave a positive reaction by RT-QuIC. Strikingly, none of the PD_{recessive_bi-allelic} showed a positive RT-QuIC α-Syn seeding profile (overall p ≤ 0.001) Numbers (n) included: PD_wildtype = 107, PD_{GBA_risk} = 53, PD_{GBA_mild} = 17, PD_{GBA_severe} = 29, PD_LRRK2 = 9, PD_{recessive_heterozygous} = 17, PD_{recessive_biallelic} = 3, DLB_wildtype = 33, DLB_GBA = 16. B While PD_{GBA_severe} patients showed the strongest RT-QuIC seeding kinetics measured by the mean relative fluorescence (RFU) of positive curves (see comparison with PD_wildtype), PD_{recessive_bi-allelic} did not seed at all.