Evidence map›Paper›PMID 39455605›Full record

ArticleNPJ Parkinson's disease2024

Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?

Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Eric Yu, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ Parkinson's disease, 2024. 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

5 · Who and what money

Authors and funding

20 authors.

Konstantin SenkevichThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada. konstantin.senkevich@mcgill.ca.ORCID http://orcid.org/0000-0003-3407-5716
Sitki Cem ParlarThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Cloe ChantereaultThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Eric YuThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0003-3525-4564
Jamil AhmadThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Jennifer A RuskeyThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Farnaz AsayeshThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Dan SpiegelmanThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.
Cheryl WatersDepartment of Neurology, College of Physicians and Surgeons, New York, Columbia City, NY, USA.
Oury MonchiDepartment of Neurology and neurosurgery, McGill University, Montréal, QC, Canada.ORCID http://orcid.org/0000-0003-2148-5409
Yves DauvilliersNational Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
Nicolas DupréNeuroscience axis, CHU de Québec-Université Laval, Québec, QC, Canada.
Irina MiliukhinaInstitute of the Human Brain of RAS, St. Petersburg, Russia.
Alla TimofeevaFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Anton EmelyanovFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Sofya PchelinaFirst Pavlov State Medical University of St. Petersburg, Saint-Petersburg, Russia.
Lior GreenbaumFaculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Sharon Hassin-BaerFaculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Roy N AlcalayDepartment of Neurology, College of Physicians and Surgeons, New York, Columbia City, NY, USA.
Ziv Gan-OrThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada. ziv.gan-or@mcgill.ca.ORCID http://orcid.org/0000-0003-0332-234X

Funding

Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
Genome sequencing of Lewy Body Dementia and Frontotemporal Dementia: a public resource for the study of Alzheimers disease and related dementiasZIAAG000935 · NIA · NATIONAL INSTITUTE ON AGING · PI TRAYNOR, BRYAN · 2017 to 2025
$771k
Intramural NIH HHS ZIA AG000935Intramural NIH HHS ZIA NS003154NCATS NIH HHS UL1 TR000040NINDS NIH HHS K02 NS080915U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) K02NS080915
6 · The paper itself

Abstract

Previous studies have established that rare biallelic SYNJ1 mutations cause autosomal recessive parkinsonism and Parkinson's disease (PD). We analyzed 8165 PD cases, 818 early-onset-PD (EOPD, < 50 years) and 70,363 controls. Burden meta-analysis revealed an association between rare nonsynonymous variants and variants with high Combined Annotation-Dependent Depletion score (> 20) in the Sac1 SYNJ1 domain and PD (Pfdr = 0.040). A meta-analysis of EOPD patients demonstrated an association between all rare heterozygous SYNJ1 variants and PD (Pfdr = 0.029).

Identifiers

PMID39455605
PMCPMC11512049

What OpenQuestion holds

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Registered trials

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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.