Evidence map›Paper›PMID 31493133›Full record

ArticleNeurogenetics2019

Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease.

Nicola du Toit, Riaan van Coller, David G Anderson, Jonathan Carr, Soraya Bardien

Abstract read
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.1field-weighted citation impact, top 22% 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

8 citing papers in PubMed, 15 citations in OpenAlex.

  1. Article
  2. Article
  3. Multiple sclerosis inFrontiers in neurology · 2024
    Article
  4. Article
  5. Review
  6. Copy Number Variation in Parkinson's Disease: An Update from Sub-Saharan Africa.Movement disorders : official journal of the Movement Disorder Society · 2021
    Article
  7. Article
  8. Article
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

5 authors at 3 institutions in 1 country.

Nicola du ToitDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Riaan van CollerDepartment of Neurology, School of Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.ORCID 0000-0001-6250-363X
David G AndersonUniversity of the Witwatersrand Donald Gordon Medical Centre, Neurology, University of the Witwatersrand, Johannesburg, South Africa.ORCID 0000-0002-2831-6424
Jonathan CarrDivision of Neurology, Department of Medicine, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa. jcarr@sun.ac.za.ORCID 0000-0002-7677-426X
Soraya BardienDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa. sbardien@sun.ac.za.ORCID 0000-0002-3508-3438
Stellenbosch University · ZAUniversity of Pretoria · ZAUniversity of the Witwatersrand · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

G2019S in LRRK2 is the most common mutation associated with Parkinson's disease (PD). Highest frequencies are in North African Arabic (30-41%) and Ashkenazi Jewish (6-30%) populations, mostly due to founder effects. Here, we investigated the frequency of G2019S in 647 unrelated South African PD patients from different ancestral origins. It was found in only 1.2% (8/647) of patients. Notably, none of the 91 individuals of African ancestry had G2019S. It was present in 1.9% (3/154) and 1% (5/493) of early- and late-onset cases, respectively. The frequency of G2019S exhibits ethnic-specific differences and warrants further study in sub-Saharan African populations.

Indexed as

MutationAdultAgedAge of OnsetFemaleGene FrequencyHeterozygoteHomozygoteHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMiddle AgedParkinson DiseasePolymerase Chain ReactionSouth AfricaLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanG2019S mutationLRRK2 geneParkinson’s diseasePhenotypeSouth African patients

Identifiers

PMID31493133
OpenAlexW2971373975

What OpenQuestion holds

Textmetadata
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.