%0 Journal Article
%A Brockmann, Kathrin
%A Quadalti, Corinne
%A Lerche, Stefanie
%A Rossi, Marcello
%A Wurster, Isabel
%A Baiardi, Simone
%A Röben, Benjamin
%A Mammana, Angela
%A Zimmermann, Milan
%A Hauser, Ann-Kathrin
%A Deuschle, Christian
%A Schulte, Claudia
%A Waniek, Katharina
%A Lachmann, Ingolf
%A Sjödin, Simon
%A Brinkmalm, Ann
%A Blennow, Kaj
%A Zetterberg, Henrik
%A Gasser, Thomas
%A Parchi, Piero
%T Association between CSF alpha-synuclein seeding activity and genetic status in Parkinson's disease and dementia with Lewy bodies.
%J Acta Neuropathologica Communications
%V 9
%N 1
%@ 2051-5960
%C London
%I Biomed Central
%M DZNE-2021-01335
%P 175
%D 2021
%Z CC BY
%X The clinicopathological heterogeneity in Lewy-body diseases (LBD) highlights the need for pathology-driven biomarkers in-vivo. Misfolded alpha-synuclein (α-Syn) is a lead candidate based on its crucial role in disease pathophysiology. Real-time quaking-induced conversion (RT-QuIC) analysis of CSF has recently shown high sensitivity and specificity for the detection of misfolded α-Syn in patients with Parkinson's disease (PD) and dementia with Lewy bodies (DLB). In this study we performed the CSF RT-QuIC assay in 236 PD and 49 DLB patients enriched for different genetic forms with mutations in GBA, parkin, PINK1, DJ1, and LRRK2. A subgroup of 100 PD patients was also analysed longitudinally. We correlated kinetic seeding parameters of RT-QuIC with genetic status and CSF protein levels of molecular pathways linked to α-Syn proteostasis. Overall, 85
%K Biomarkers: cerebrospinal fluid
%K Humans
%K Lewy Body Disease: cerebrospinal fluid
%K Lewy Body Disease: genetics
%K Lewy Body Disease: pathology
%K Parkinson Disease: cerebrospinal fluid
%K Parkinson Disease: genetics
%K Parkinson Disease: pathology
%K alpha-Synuclein: cerebrospinal fluid
%K CSF (Other)
%K GBA (Other)
%K PD (Other)
%K Parkin (Other)
%K RT-QuIC (Other)
%K α-Syn seeding (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:34717775
%2 pmc:PMC8556894
%R 10.1186/s40478-021-01276-6
%U https://pub.dzne.de/record/162639