Evidence map›Paper›PMID 41445612›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Kathryn Step, Lusanda Madula, Nicole Kuznetsov, Elizna Maasdorp, Jonathan Carr, Riaan van Coller, Ignacio F Mata, Soraya Bardien

Abstract readPreprint
PubMed Full text at PMC Publisher
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

8 authors.

Kathryn StepDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-4054-7030
Lusanda MadulaDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-4862-7887
Nicole KuznetsovCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0005-9847-0282
Elizna MaasdorpSouth African Medical Research Council Centre for Tuberculosis Research, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-3402-169X
Jonathan CarrDivision of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-7677-426X
Riaan van CollerDepartment of Neurology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.ORCID 0000-0001-6250-363X
Ignacio F MataGenome Sciences and Systems Biology, Cleveland Clinic Research, Cleveland Clinic Foundation, Cleveland, United States.ORCID 0000-0003-1198-0633
Soraya BardienDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-3508-3438

Funding

Additional Sequencing for the Alzheimer Disease Sequencing Project (ADSP) the Follow-Up Study (FUS), The Global Population InitiativeU01AG076482 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Clifton L Dalgard, ANTHONY JOHN GRISWOLD · 2022 to 2026
$26.9M
Modeling the impact of Women's Specific Health Factors in PD outcomes in LatinasR01NS112499 · NINDS · CLEVELAND CLINIC LERNER COM-CWRU · PI FERNANDEZ MATA, IGNACIO · 2020 to 2024
$3.3M
The Interplay between Genetics and Aerobic Exercise to Slow Parkinson's disease (GEARS) TrialR01NS132437 · NINDS · CLEVELAND CLINIC LERNER COM-CWRU · PI JAY L. ALBERTS · 2024 to 2026
$1.8M
BLRD VA I01 BX005978NIA NIH HHS U01 AG076482NINDS NIH HHS R01 NS112499NINDS NIH HHS R01 NS132437
6 · The paper itself

Abstract

Parkinson's disease (PD) is a complex neurodegenerative disorder with a substantial genetic influence. To better characterize the genetic landscape of PD in South Africa, we conducted the largest genetic screening to date for pathogenic single nucleotide and copy number variations (CNVs) using genotyping array data from 689 PD probands. We identified 16 unique missense variants, confirming 15 with Sanger sequencing, in 47 individuals across seven well-established PD genes, with

Indexed as

CNV-Findercopy number variantsMultiplex Ligation-dependent Probe AmplificationParkinson’s diseasepathogenic variantsPRKNSNCASouth Africa

Identifiers

PMID41445612
PMCPMC12723977

What OpenQuestion holds

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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.