TY  - JOUR
AU  - Brockmann, Kathrin
AU  - Quadalti, Corinne
AU  - Lerche, Stefanie
AU  - Rossi, Marcello
AU  - Wurster, Isabel
AU  - Baiardi, Simone
AU  - Röben, Benjamin
AU  - Mammana, Angela
AU  - Zimmermann, Milan
AU  - Hauser, Ann-Kathrin
AU  - Deuschle, Christian
AU  - Schulte, Claudia
AU  - Waniek, Katharina
AU  - Lachmann, Ingolf
AU  - Sjödin, Simon
AU  - Brinkmalm, Ann
AU  - Blennow, Kaj
AU  - Zetterberg, Henrik
AU  - Gasser, Thomas
AU  - Parchi, Piero
TI  - Association between CSF alpha-synuclein seeding activity and genetic status in Parkinson's disease and dementia with Lewy bodies.
JO  - Acta Neuropathologica Communications
VL  - 9
IS  - 1
SN  - 2051-5960
CY  - London
PB  - Biomed Central
M1  - DZNE-2021-01335
SP  - 175
PY  - 2021
N1  - CC BY
AB  - 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
KW  - Biomarkers: cerebrospinal fluid
KW  - Humans
KW  - Lewy Body Disease: cerebrospinal fluid
KW  - Lewy Body Disease: genetics
KW  - Lewy Body Disease: pathology
KW  - Parkinson Disease: cerebrospinal fluid
KW  - Parkinson Disease: genetics
KW  - Parkinson Disease: pathology
KW  - alpha-Synuclein: cerebrospinal fluid
KW  - CSF (Other)
KW  - GBA (Other)
KW  - PD (Other)
KW  - Parkin (Other)
KW  - RT-QuIC (Other)
KW  - α-Syn seeding (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:34717775
C2  - pmc:PMC8556894
DO  - DOI:10.1186/s40478-021-01276-6
UR  - https://pub.dzne.de/record/162639
ER  -