Evidence map›Paper›PMID 21989245›Full record

ReviewNature reviews. Neurology2011

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Peter M Andersen, Ammar Al-Chalabi

Registry-linked trialAbstract readReview
PubMed Publisher
In one paragraph

Review in Nature reviews. Neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02869048 (Amyotrophic Lateral Sclerosis and the Innate Immune System), which is not on this map. Cited by 326 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
326citing papers in PubMed, 4 pooled it
41.7field-weighted citation impact, top 1% 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.

NCT02869048 unknown statusnot on this mapstarted 2016, after this paper: background citation

Amyotrophic Lateral Sclerosis and the Innate Immune System

TypeobservationalSponsorRigshospitalet, DenmarkRan2016 to 2026Enrolled375ConditionsAmyotrophic Lateral Sclerosis, Neurodegenerative Disease, Motor Neuron Disease
3 · Its place in the literature

Who cites it

326 citing papers in PubMed, 4 syntheses or guidelines pooled it, 675 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. Trial
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Review

266 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

2 authors at 2 institutions in 2 countries.

Peter M AndersenInstitute of Pharmacology and Clinical Neuroscience, Section for Neurology, Umeå University, SE-901 85 Umeå, Sweden. peter.andersen@neuro.umu.se
Ammar Al-Chalabi
King's College London · GBUmeå University · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary amyotrophic lateral sclerosis (ALS) encompasses a group of genetic disorders characterized by adult-onset loss of the lower and upper motor neuron systems, often with involvement of other parts of the nervous system. Cases of hereditary ALS have been attributed to mutations in 12 different genes, the most common being SOD1, FUS and TARDBP-mutations in the other genes are rare. The identified genes explain 25-35% of cases of familial ALS, but identifying the remaining genes has proved difficult. Only a few genes seem to account for significant numbers of ALS cases, with many others causing a few cases each. Hereditary ALS can be inherited in an autosomal dominant, autosomal recessive or X-linked manner, and families with low disease penetrance are frequently observed. In such families, the genetic predisposition may remain unnoticed, so many patients carry a diagnosis of isolated or sporadic ALS. The only clinical feature that distinguishes recognized hereditary from apparently sporadic ALS is a lower mean age of onset in the former. All the clinical features reported in hereditary cases (including signs of extrapyramidal, cerebellar or cognitive involvement) have also been observed in sporadic cases. Genetic counseling and risk assessment in relatives depend on establishing the specific gene defect and the disease penetrance in the particular family.

Indexed as

Amyotrophic Lateral SclerosisAnimalsGenetic Predisposition to DiseaseHumans

Identifiers

PMID21989245
OpenAlexW2055456084

What OpenQuestion holds

Textmetadata
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.