%0 Journal Article
%A Siderowf, Andrew
%A Concha-Marambio, Luis
%A Lafontant, David-Erick
%A Farris, Carly M
%A Ma, Yihua
%A Urenia, Paula A
%A Nguyen, Hieu
%A Alcalay, Roy N
%A Chahine, Lana M
%A Foroud, Tatiana
%A Galasko, Douglas
%A Kieburtz, Karl
%A Merchant, Kalpana
%A Mollenhauer, Brit
%A Poston, Kathleen L
%A Seibyl, John
%A Simuni, Tanya
%A Tanner, Caroline M
%A Weintraub, Daniel
%A Videnovic, Aleksandar
%A Choi, Seung Ho
%A Kurth, Ryan
%A Caspell-Garcia, Chelsea
%A Coffey, Christopher S
%A Frasier, Mark
%A Oliveira, Luis M A
%A Hutten, Samantha J
%A Sherer, Todd
%A Marek, Kenneth
%A Soto, Claudio
%T Assessment of heterogeneity among participants in the Parkinson's Progression Markers Initiative cohort using α-synuclein seed amplification: a cross-sectional study.
%J The lancet  / Neurology
%V 22
%N 5
%@ 1474-4422
%C London
%I Lancet Publ. Group
%M DZNE-2023-00475
%P 407 - 417
%D 2023
%X Emerging evidence shows that α-synuclein seed amplification assays (SAAs) have the potential to differentiate people with Parkinson's disease from healthy controls. We used the well characterised, multicentre Parkinson's Progression Markers Initiative (PPMI) cohort to further assess the diagnostic performance of the α-synuclein SAA and to examine whether the assay identifies heterogeneity among patients and enables the early identification of at-risk groups.This cross-sectional analysis is based on assessments done at enrolment for PPMI participants (including people with sporadic Parkinson's disease from LRRK2 and GBA variants, healthy controls, prodromal individuals with either rapid eye movement sleep behaviour disorder (RBD) or hyposmia, and non-manifesting carriers of LRRK2 and GBA variants) from 33 participating academic neurology outpatient practices worldwide (in Austria, Canada, France, Germany, Greece, Israel, Italy, the Netherlands, Norway, Spain, the UK, and the USA). α-synuclein SAA analysis of CSF was performed using previously described methods. We assessed the sensitivity and specificity of the α-synuclein SAA in participants with Parkinson's disease and healthy controls, including subgroups based on genetic and clinical features. We established the frequency of positive α-synuclein SAA results in prodromal participants (RBD and hyposmia) and non-manifesting carriers of genetic variants associated with Parkinson's disease, and compared α-synuclein SAA to clinical measures and other biomarkers. We used odds ratio estimates with 95
%K Humans
%K alpha-Synuclein: genetics
%K Parkinson Disease: diagnosis
%K Parkinson Disease: genetics
%K Cross-Sectional Studies
%K Anosmia
%K REM Sleep Behavior Disorder
%K Biomarkers
%K alpha-Synuclein (NLM Chemicals)
%K Biomarkers (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC10627170
%$ pmid:37059509
%R 10.1016/S1474-4422(23)00109-6
%U https://pub.dzne.de/record/257678