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@ARTICLE{Yan:1027035,
author = {Yan, Shijun and Jiang, Cheng and Janzen, Annette and
Barber, Thomas R. and Seger, Aline and Sommerauer, Michael
and Davis, Jason J. and Marek, Kenneth and Hu, Michele T.
and Oertel, Wolfgang H. and Tofaris, George K.},
title = {{N}euronally {D}erived {E}xtracellular {V}esicle
α-{S}ynuclein as a {S}erum {B}iomarker for {I}ndividuals at
{R}isk of {D}eveloping {P}arkinson {D}isease},
journal = {JAMA neurology},
volume = {81},
number = {1},
issn = {2168-6149},
address = {Chicago, Ill.},
publisher = {American Medical Association},
reportid = {FZJ-2024-03601},
pages = {59 -},
year = {2024},
abstract = {IMPORTANCE Nonmotor symptoms of Parkinson disease (PD)
often predate the movement disorder by decades. Currently,
there is no blood biomarker to define this prodromal
phase.OBJECTIVE To investigate whether a-synuclein in
neuronally derived serum-extracellular vesicles identifies
individuals at risk of developing PD and related
dementia.DESIGN, SETTING, AND PARTICIPANTS This
retrospective, cross-sectional multicenter study of serum
samples included the Oxford Discovery, Marburg, Cologne, and
Parkinson·s Progression Markers Initiative cohorts.
Participants were recruited from July 2013 through August
2023 and samples were analyzed from April 2022 through
September 2023. The derivation group (n = 170) included
participants with isolated rapid eye movement sleep behavior
disorder (iRBD) and controls. Two validation groups were
used: the first (n = 122)included participants with iRBD and
controls and the second (n = 263) included nonmanifestGBAN/
o4 s9 gene carriers, participants with iRBD or hyposmia, and
available dopamine transporter single-photon emission
computed tomography, healthy controls, and patients with
sporadic PD. Overall the study included 199 participants
with iRBD, 20 hyposmic participants with available dopamine
transporter single-photon emission computed tomography, 146
nonmanifest GBAIN 4095 gene carriers, 21 GBAIN 4095 gene
carrier patients with PD, 50 patients with sporadic PD, and
140 healthy controls. In the derivation group and validation
group 1. participants with polysomnographically confirmed
iRBD were included. In the validation group 2, at-risk
participants with available Movement Disorder Society
prodromal markers and serum samples were included. Among 580
potential participants,4 were excluded due to alternative
diagnoses.EXPOSURES Clinical assessments, imaging, and serum
collection.MAIN OUTCOME AND MEASURES LlCAM-positive
extracellular vesicles (LlEV) were immunocaptured from
serum. a-Synuclein and syntenin-1 were measured by
electrochemiluminescence. Area under the receiver operating
characteristic (ROC) curve (AUC) with $95\%$ Cis evaluated
biomarker performance. Probable prodromal PD was determined
using the updated Movement Disorder Society research
criteria. Multiple linear regression models assessed the
association between LlEV a-synuclein and prodromal
markers.RESULTS Among 576 participants included, the mean
(SD) age was 64.30 (8.27) years, 394 were male (68 $.4\%),$
and 182 were female $(31.6\%).$ A derived threshold of serum
LlEV a-synuclein distinguished participants with iRBD from
controls (AUC = 0.91; $95\%$ Cl, 0.86-0.96) and those with
more than $80\%$ probability of having prodromal PD from
participants with less than $5\%$ probability (AUC = 0.80;
$95\%$ Cl. 0.71-0.89) . Subgroup analyses revealed that
specific combinations of prodromal markers were associated
with increased LlEV a-synuclein levels. Across all cohorts,
LlEV a-synuclein differentiated participants with more than
$80\%$ probability of having prodromal PD from current
andhistoric healthy control populations (AUC = 0.90; $95\%$
Cl, 0 .87-0 .93), irrespective of initialdiagnosis. LlEV
a-synuclein was increased in at-risk participants with a
positive cerebrospinal fluid seed amplification assay and
was above the identified threshold in $80\%$ of cases(n =
40) that phenoconverted to PD or related
dementia.CONCLUSIONS AND RELEVANCE LlEVa-synuclein in
combination with prodromal markers should be considered in
the stratification of those at high risk of developing PD
and related Lewy body diseases.},
cin = {INM-3},
ddc = {610},
cid = {I:(DE-Juel1)INM-3-20090406},
pnm = {5252 - Brain Dysfunction and Plasticity (POF4-525)},
pid = {G:(DE-HGF)POF4-5252},
typ = {PUB:(DE-HGF)16},
pubmed = {38048087},
UT = {WOS:001117758100002},
doi = {10.1001/jamaneurol.2023.4398},
url = {https://juser.fz-juelich.de/record/1027035},
}