Evidence map›Paper›PMID 26601739›Full record

ArticleNeurobiology of aging2016

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.

Albert A Davis, Kristin M Andruska, Bruno A Benitez, Brad A Racette, Joel S Perlmutter, Carlos Cruchaga

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
70citing papers in PubMed, 6 pooled it
7.3field-weighted citation impact, top 2% of its field
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

70 citing papers in PubMed, 6 syntheses or guidelines pooled it, 109 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.Movement disorders : official journal of the Movement Disorder Society · 2022
    Pooled it
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  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Identification of Novel Genetic Loci Affecting Age at Onset of Parkinson's Disease: A Genome-wide Association Study.Movement disorders : official journal of the Movement Disorder Society · 2025
    Article
  13. IsmedRxiv : the preprint server for health sciences · 2024
    Article
  14. Article
  15. Article
  16. Review
  17. medRxiv : the preprint server for health sciences · 2023
    Article
  18. Classification of GBA1 Variants in Parkinson's Disease: The GBA1-PD Browser.Movement disorders : official journal of the Movement Disorder Society · 2023
    Review
  19. Association ofFrontiers in aging neuroscience · 2023
    Article
  20. Article

10 more citing papers are in PubMed but not listed here.

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 at 2 institutions in 2 countries.

Albert A DavisDepartment of Neurology, Washington University, St. Louis, MO, USA.
Kristin M AndruskaDepartment of Neurology, Washington University, St. Louis, MO, USA.
Bruno A BenitezDepartment of Psychiatry, Washington University, School of Medicine, St. Louis, MO, USA.
Brad A RacetteDepartment of Neurology, Washington University, St. Louis, MO, USA; Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, MO, USA; School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Parktown, South Africa.
Joel S PerlmutterDepartment of Neurology, Washington University, St. Louis, MO, USA; Department of Radiology, Washington University, St. Louis, MO, USA; Department of Anatomy and Neurobiology, Washington University, St. Louis, MO, USA; Programs in Physical Therapy and Occupational Therapy, Washington University, St. Louis, MO, USA; Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, MO, USA.
Carlos CruchagaDepartment of Psychiatry, Washington University, School of Medicine, St. Louis, MO, USA; Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, MO, USA. Electronic address: cruchagac@psychiatry.wustl.edu.
Washington University in St. Louis · USUniversity of the Witwatersrand · ZA

Funding

INVESTIGATIONS OF DEMENTIA IN PARKINSON DISEASER01NS075321 · NINDS · WASHINGTON UNIVERSITY · PI CAMPBELL, MEGHAN C, PERLMUTTER, JOEL SYNES · 2011 to 2021
$8.2M
MECHANISMS OF DEEP BRAIN STIMULATIONR01NS041509 · NINDS · WASHINGTON UNIVERSITY · PI PERLMUTTER, JOEL SYNES · 2001 to 2015
$6.8M
VALIDATION OF NEUROIMAGING BIOMARKERS FOR NIGROSTRIATAL NEURONSR01NS058714 · NINDS · WASHINGTON UNIVERSITY · PI PERLMUTTER, JOEL SYNES · 2008 to 2016
$4.4M
Identifying Rare Variants that Increase Risk for Alzheimer's DiseaseRF1AG044546 · NIA · WASHINGTON UNIVERSITY · PI CRUCHAGA, CARLOS · 2019 to 2019
$3.6M
IDENTIFYING RARE VARIANTS THAT INCREASE RISK FOR ALZHEIMER'S DISEASER01AG044546 · NIA · WASHINGTON UNIVERSITY · PI CRUCHAGA, CARLOS · 2013 to 2017
$2.7M
Investigations of Dementia in Parkinson DiseaseRF1NS075321 · NINDS · WASHINGTON UNIVERSITY · PI CAMPBELL, MEGHAN C, PERLMUTTER, JOEL SYNES · 2023 to 2023
$2.3M
NIA NIH HHS R01 AG044546NIA NIH HHS R01AG044546NIA NIH HHS RF1 AG044546NINDS NIH HHS NS058714NINDS NIH HHS NS075321NINDS NIH HHS NS41509NINDS NIH HHS R01 NS041509NINDS NIH HHS R01 NS058714NINDS NIH HHS R01 NS075321NINDS NIH HHS RF1 NS075321
6 · The paper itself

Abstract

Multiple genetic variants have been linked to risk of Parkinson disease (PD), but known mutations do not explain a large proportion of the total PD cases. Similarly, multiple loci have been associated with PD risk by genome-wide association studies (GWAS). The influence that genetic factors confer on phenotypic diversity remains unclear. Few studies have been performed to determine whether the GWAS loci are also associated with age at onset (AAO) or motor progression. We used 2 PD case-control data sets (Washington University and the Parkinson's Progression Markers Initiative) to determine whether polymorphisms located at the GWAS top hits (GBA, ACMSD/TMEM163, STK39, MCCC1/LAMP3, GAK/TMEM175, SNCA, and MAPT) show association with AAO or motor progression. We found associations between single nucleotide polymorphisms at the GBA and MAPT loci and PD AAO and progression. These findings reinforce the complex genetic basis of PD and suggest that distinct genes and variants explain the genetic architecture of PD risk, onset, and progression.

Indexed as

Genome-Wide Association StudyAgedAged, 80 and overAge of Onsetalpha-Synucleinbeta-GlucosidaseCase-Control StudiesDatasets as TopicDisease ProgressionFemaleGenotyping TechniquesHaplotypesHumansMaleMiddle AgedMotor Activityalpha-Synucleinbeta-GlucosidaseMAPT protein, humanSNCA protein, humantau ProteinsAge at onsetGBAMAPTMotor progressionParkinson diseaseSNCA

Identifiers

PMID26601739
PMCPMC4688052
OpenAlexW1765655507

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

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.