Evidence map›Paper›PMID 41310328›Full record

ArticleNPJ Parkinson's disease2025

Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts.

Longfei Wang, Michael Milton, Liam G Fearnley, Oneil G Bhalala, Melanie Bahlo, Haloom Rafehi

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ Parkinson's disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
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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

6 authors.

Longfei WangGenetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Michael MiltonDepartment of Medical Biology, The University of Melbourne, Parkville, VIC, Australia.
Liam G FearnleyGenetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Oneil G BhalalaGenetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
Melanie BahloGenetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia. bahlo@wehi.edu.au.
Haloom RafehiGenetics and Gene Regulation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia. rafehi.h@wehi.edu.au.

Funding

Genetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4M
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 NS003154Michael J. Fox Foundation for Parkinson's Research MJFF-021399National Health and Medical Research Council 1194364National Health and Medical Research Council 1195236
6 · The paper itself

Abstract

Repeat expansions (REs) may be Parkinson's disease (PD) risk factors. We screened whole genome sequencing data from the AMP PD Lewy Body Dementia (LBD) and PD cohorts for 37 REs associated with neurological disorders, and identified both interrupted and uninterrupted REs in ATXN2 in 4/2431 PD and 2/2468 LBD cases, but none in controls. These findings support pleiotropy for certain REs in PD.

Identifiers

PMID41310328
PMCPMC12661016

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