Evidence map›Paper›PMID 24244438›Full record

Trial reportPloS one2013

Rare variants in PLXNA4 and Parkinson's disease.

Eva C Schulte, Immanuel Stahl, Darina Czamara, Daniel C Ellwanger, Sebastian Eck, Elisabeth Graf, Brit Mollenhauer, Alexander Zimprich, Peter Lichtner, Dietrich Haubenberger and 9 more

Open access · goldAbstract readClinical Trial
In one paragraph

Trial report in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.4field-weighted citation impact, top 43% 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

11 citing papers in PubMed, 23 citations in OpenAlex.

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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

19 authors at 9 institutions in 4 countries.

Eva C SchulteNeurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität, München, Munich, Germany ; Institut für Humangenetik, Helmholtz Zentrum München, Munich, Germany.
Immanuel Stahl
Darina Czamara
Daniel C Ellwanger
Sebastian Eck
Elisabeth Graf
Brit Mollenhauer
Alexander Zimprich
Peter Lichtner
Dietrich Haubenberger
Walter Pirker
Thomas Brücke
Benjamin Bereznai
Maria J Molnar
Annette Peters
Christian Gieger
Bertram Müller-Myhsok
Claudia Trenkwalder
Juliane Winkelmann
Helmholtz Zentrum München · DEMedical University of Vienna · ATMunich Cluster for Systems Neurology · DEParacelsus Elena Klinik Kassel · DESemmelweis University · HUKlinikum rechts der Isar · DEMax Planck Institute of Psychiatry · DEWeihenstephan-Triesdorf University of Applied Sciences · DEWilhelminen Hospital · AT

Funding

Intramural NIH HHS
6 · The paper itself

Abstract

Approximately 20% of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset familial PD followed by frequency assessment in 975 PD cases and 1014 ethnically-matched controls and linkage analysis to identify potentially causal variants. Based on the predicted penetrance and the frequencies, a variant in PLXNA4 proved to be the best candidate and PLXNA4 was screened for additional variants in 862 PD cases and 940 controls, revealing an excess of rare non-synonymous coding variants in PLXNA4 in individuals with PD. Although we cannot conclude that the variant in PLXNA4 is indeed the causative variant, these findings are interesting in the light of a surfacing role of axonal guidance mechanisms in neurodegenerative disorders but, at the same time, highlight the difficulties encountered in the study of rare variants identified by next-generation sequencing in diseases with autosomal dominant or complex patterns of inheritance.

Indexed as

Genetic VariationPenetranceCase-Control StudiesFamilyFemaleGenetic LinkageHumansMaleParkinson DiseaseReceptors, Cell SurfacePlxna4 protein, humanReceptors, Cell Surface

Identifiers

PMID24244438
PMCPMC3823607
OpenAlexW1987802520

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.