Evidence map›Paper›PMID 20226542›Full record

ArticleTrends in neurosciences2010

Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling.

Stephanie Schorge, Joyce van de Leemput, Andrew Singleton, Henry Houlden, John Hardy

Open access · greenAbstract read
In one paragraph

Article in Trends in neurosciences, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed
3.8field-weighted citation impact, top 6% 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

50 citing papers in PubMed, 84 citations in OpenAlex.

  1. Trial
  2. Article
  3. Case report: Episodic ataxia without ataxia?Frontiers in neurology · 2023
    Article
  4. Review
  5. Article
  6. Purkinje Neurons with Loss of STIM1 Exhibit Age-Dependent Changes in Gene Expression and Synaptic Components.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021
    Article
  7. Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Cerebellar compartmentation of prion pathogenesis.Brain pathology (Zurich, Switzerland) · 2018
    Article
  16. Review
  17. Review
  18. Article
  19. Article
  20. 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 2 institutions in 2 countries.

Stephanie SchorgeReta Lila Weston Laboratories and Department of Molecular Neuroscience, Institute of Neurology, University College London, London, WC1N 3BG, UK.
Joyce van de Leemput
Andrew Singleton
Henry Houlden
John Hardy
University College London · GBNational Institutes of Health · US

Funding

Genome wide SNP analysis in Parkinson's diseaseZIAAG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.6M
Genetic analysis in families with neurological diseaseZIAAG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$10.9M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Whole Genome Screen in families with Parkinson's diseaseZ01AG000958 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2003 to 2008
$1.4M
Intramural NIH HHS Z01 AG000949Intramural NIH HHS Z01 AG000958Medical Research Council G0601943Medical Research Council G0701075Medical Research Council G0802760Wellcome Trust
6 · The paper itself

Abstract

A persistent mystery about the ataxias has been why mutations in genes--many of which are expressed widely in the brain--primarily cause ataxia, and not, for example, epilepsy or dementia. Why should a polyglutamine stretch in the TATA-binding protein (that is important in all cells) particularly disrupt cerebellar coordination? We propose that advances in the genetics of cerebellar ataxias suggest a rational hypothesis for how so many different genes lead to predominantly cerebellar defects. We argue that the unifying feature of many genes involved in cerebellar ataxias is their impact on the signaling protein ITPR1 (inositiol 1,4,5-triphosphate receptor type 1), that underlies coincidence detection in Purkinje cells and could play an important role in cerebellar coordination.

Indexed as

AnimalsCalciumCalcium Channels, N-TypeCerebellar AtaxiaGlutamic AcidHumansInositol 1,4,5-Trisphosphate ReceptorsModels, BiologicalMutationPeptidesPotassium ChannelsPurkinje CellsSignal TransductionCalciumCalcium Channels, N-TypeGlutamic AcidInositol 1,4,5-Trisphosphate ReceptorsPeptidespolyglutaminePotassium Channels

Identifiers

PMID20226542
PMCPMC4684264
OpenAlexW2102459791

What OpenQuestion holds

Textmetadata
LicenceTDM
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.