Evidence map›Paper›PMID 33134917›Full record

ReviewBrain communications2020

Intricacies of aetiology in intrafamilial degenerative disease.

Jessica L Lowry, Éanna B Ryan, Y Taylan Esengul, Nailah Siddique, Teepu Siddique

Registry-linked trialOpen access · goldAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Brain communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00821132 (Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.), which is not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 37% 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.

NCT00821132 completednot on this map

Identification of Genes Causing Familial ALS or Increasing Risk for Sporadic ALS and ALS With Frontotemporal Dementia and Understanding Disease Mechanism.

TypeobservationalSponsorNorthwestern UniversityRan1991 to 2023Enrolled13,521ConditionsAmyotrophic Lateral Sclerosis (ALS), Familial Amyotrophic Lateral Sclerosis, ALS With Frontotemporal Dementia (ALS/FTD), Lou Gehrig's DiseaseArmsGenetic study of ALS families
3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. 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 1 institution in 1 country.

Jessica L LowryThe Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Éanna B RyanThe Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Y Taylan EsengulThe Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.ORCID 0000-0002-2258-3820
Nailah SiddiqueThe Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Teepu SiddiqueThe Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Northwestern University · US

Funding

Investigation of ALS caused by mutant CHCHD10R01NS099638 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI SIDDIQUE, TEEPU · 2016 to 2020
$2.6M
Genes and Genetic Models in Motor Neuron DisordersR01NS046535 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI SIDDIQUE, TEEPU · 2003 to 2007
$1.7M
NINDS NIH HHS R01 NS046535NINDS NIH HHS R01 NS099638
6 · The paper itself

Abstract

The genetic underpinnings of late-onset degenerative disease have typically been determined by screening families for the segregation of genetic variants with the disease trait in affected, but not unaffected, individuals. However, instances of intrafamilial etiological heterogeneity, where pathogenic variants in a culprit gene are not shared among all affected family members, continue to emerge and confound gene-discovery and genetic counselling efforts. Discordant intrafamilial cases lacking a mutation shared by other affected family members are described as disease phenocopies. This description often results in an over-simplified acceptance of an environmental cause of disease in the phenocopy cases, while the role of intrafamilial genetic heterogeneity, shared

Indexed as

aetiologyinheritanceneurodegenerationphenocopypleiotropy

Identifiers

PMID33134917
PMCPMC7585693
OpenAlexW3092380345

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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.