Evidence map›Paper›PMID 40766144›Full record

ArticlemedRxiv : the preprint server for health sciences2025

A Transcriptomic Roadmap of Parkinson's Disease Progression at Single Cell Resolution.

Tereza Clarence, Nicolas Masse, Christian Porras, Prashant Nm, Sabina Berretta, Vahram Haroutunian, David A Davis, William K Scott, Gabriel Hoffman, John Fullard and 3 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Tereza ClarenceCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-0099-2797
Nicolas MasseCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Christian PorrasCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Prashant NmCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Sabina BerrettaStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Vahram HaroutunianFriedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
David A DavisBrain Endowment Bank, Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, United States.
William K ScottBrain Endowment Bank, Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, United States.
Gabriel HoffmanCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
John FullardCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Donghoon LeeCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jaroslav BendlCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Panos RoussosCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Funding

Single-nucleus transcriptome profiling across multiple brain regions in Parkinson's DiseaseU01NS125580 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI HAROUTUNIAN, VAHRAM, ROUSSOS, PANAGIOTIS · 2021 to 2021
$2.1M
NINDS NIH HHS U01 NS125580
6 · The paper itself

Abstract

Parkinson's disease (PD) is a progressive neurodegenerative disorder with complex and heterogeneous molecular pathology across the brain. However, the full cellular architecture of PD progression remains unresolved. Here, we present a comprehensive single-nucleus transcriptomic atlas of PD spanning multiple anatomically and clinically relevant brain regions to capture shared and region-influenced transcriptomic features from 97 deeply phenotyped donors, including individuals across the full spectrum of Braak Lewy body stages. Profiling over 2 million nuclei, we define 62 transcriptionally distinct cell subtypes and uncover widespread, cell-type-specific gene expression changes across neurons, glia, and vascular cells. We identify convergent upregulation of stress-responsive transcriptional programs - such as unfolded protein response, DNA damage repair, and autophagy - across multiple cell types, with key regulators including HSF1, MYC, and FOXO3. Integrative analyses link these transcriptional alterations to PD genetic risk, revealing transcription factor to target gene networks enriched for PD GWAS loci in microglia and neuronal subpopulations. To quantify disease burden at cellular resolution, we introduce a transcriptomic pathology score, revealing early-stage activation in neurons and myeloid cells, followed by delayed engagement of vascular populations. We further demonstrate that microglia undergo dynamic, subtype-specific transitions across disease stages, including early adaptive responses and late-phase stress and proliferative programs. Altered cell-cell communication networks, particularly involving myeloid-neuronal signaling, highlight a progressive rewiring of neuroimmune interactions. This atlas provides a foundational resource for understanding PD progression at single-cell resolution, linking genetic risk to dynamic molecular pathology, and illuminating stage-specific targets for therapeutic intervention.

Indexed as

microgliaParkinson’s diseasesingle-nuclei transcriptomics

Identifiers

PMID40766144
PMCPMC12324657

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.