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 PDGBA_severe showed a positive RT-QuIC α-Syn seeding profile, 78% of PDLRRK2 and only 59% of PDrecessive _heterozygous gave a positive reaction by RT-QuIC. Strikingly, none of the PDrecessive_bi-allelic showed a positive RT-QuIC α-Syn seeding profile (overall p ≤ 0.001) Numbers (n) included: PDwildtype = 107, PDGBA_risk = 53, PDGBA_mild = 17, PDGBA_severe = 29, PDLRRK2 = 9, PDrecessive_heterozygous = 17, PDrecessive_biallelic = 3, DLBwildtype = 33, DLBGBA = 16. B While PDGBA_severe patients showed the strongest RT-QuIC seeding kinetics measured by the mean relative fluorescence (RFU) of positive curves (see comparison with PDwildtype), PDrecessive_bi-allelic did not seed at all.