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Record W1905907413 · doi:10.1093/brain/awv202

Association between α-synuclein blood transcripts and early, neuroimaging-supported Parkinson’s disease

2015· article· en· W1905907413 on OpenAlexaff
Joseph J. Locascio, Shirley Eberly, Zhixiang Liao, Ganqiang Liu, Ashley N. Hoesing, Karen Duong, Ana Trisini‐Lipsanopoulos, Kaltra Dhima, Albert Y. Hung, Alice W. Flaherty, Michael A. Schwarzschild, Michael T. Hayes, Anne‐Marie Wills, U. Shivraj Sohur, Nicte I. Mejia, Dennis J. Selkoe, David Oakes, Ira Shoulson, Xianjun Dong, Kenneth Marek, Bin Zheng, Adrian J. Ivinson, Bradley T. Hyman, John H. Growdon, Lewis Sudarsky, Michael G. Schlossmacher, Bernard Ravina, Clemens R. Scherzer

Bibliographic record

VenueBrain · 2015
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsOttawa HospitalUniversity of Ottawa
FundersNational Institute of Neurological Disorders and StrokeNational Institute on AgingMichael J. Fox Foundation for Parkinson's Research
KeywordsDiseaseParkinson's diseaseOdds ratioNeuroimagingCognitive declineLRRK2QuartileBiomarkerDopamine transporterMedicineBiobankAlpha-synucleinInternal medicineOncologyBiologyNeuroscienceDopamineDementiaBioinformaticsGeneticsConfidence intervalDopaminergic

Abstract

fetched live from OpenAlex

There are no cures for neurodegenerative diseases and this is partially due to the difficulty of monitoring pathogenic molecules in patients during life. The Parkinson’s disease gene α-synuclein (SNCA) is selectively expressed in blood cells and neurons. Here we show that SNCA transcripts in circulating blood cells are paradoxically reduced in early stage, untreated and dopamine transporter neuroimaging-supported Parkinson’s disease in three independent regional, national, and international populations representing 500 cases and 363 controls and on three analogue and digital platforms with P < 0.0001 in meta-analysis. Individuals with SNCA transcripts in the lowest quartile of counts had an odds ratio for Parkinson’s disease of 2.45 compared to individuals in the highest quartile. Disease-relevant transcript isoforms were low even near disease onset. Importantly, low SNCA transcript abundance predicted cognitive decline in patients with Parkinson’s disease during up to 5 years of longitudinal follow-up. This study reveals a consistent association of reduced SNCA transcripts in accessible peripheral blood and early-stage Parkinson’s disease in 863 participants and suggests a clinical role as potential predictor of cognitive decline. Moreover, the three independent biobank cohorts provide a generally useful platform for rapidly validating any biological marker of this common disease. The α-synuclein gene, SNCA, is selectively expressed in blood cells and neurons. Locascio et al. reveal a paradoxical reduction in SNCA transcript counts in the blood of individuals with early-stage, neuroimaging-supported Parkinson’s disease in three regional, national, and international populations. Low SCNA transcript abundance predicted subsequent cognitive decline.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.079
Threshold uncertainty score0.710

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.031
GPT teacher head0.264
Teacher spread0.234 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations89
Published2015
Admission routes1
Has abstractyes

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