Evidence map›Paper›PMID 30315477›Full record

ArticleMolecular neurobiology2019

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.

Jean-François Schmouth, Gabrielle Houle, Amirthagowri Ambalavanan, Claire S Leblond, Dan Spiegelman, Sandra B Laurent, Cynthia V Bourassa, Michel Panisset, Sylvain Chouinard, Nicolas Dupré and 4 more

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular neurobiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Genomic Markers for Essential Tremor.Pharmaceuticals (Basel, Switzerland) · 2021
    Review
  2. The Concept of an Epilepsy Brain Bank.Frontiers in neurology · 2020
    Review
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

14 authors.

Jean-François SchmouthDepartment of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
Gabrielle HouleMontreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
Amirthagowri AmbalavananMontreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
Claire S LeblondMontreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
Dan SpiegelmanMontreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
Sandra B LaurentMontreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
Cynthia V BourassaMontreal Neurological Institute and Hospital, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
Michel PanissetCentre Hospitalier Universitaire de Montréal-Hotel Dieu, Movement Disorders Unit, CHUM, Montreal, Quebec, Canada.
Sylvain ChouinardCentre Hospitalier Universitaire de Montréal-Hotel Dieu, Movement Disorders Unit, CHUM, Montreal, Quebec, Canada.
Nicolas DupréDepartment of Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada.
Carles Vilariño-GüellDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Alex RajputDivision of Neurology, Saskatchewan Movement Disorders Program, University of Saskatchewan, Saskatoon Health Region, Saskatoon, SK, Canada.
Patrick A DionDepartment of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
Guy A RouleauDepartment of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. guy.rouleau@mcgill.ca.ORCID http://orcid.org/0000-0001-8403-1418

Funding

Canadian Institutes of Health Foundation Scheme Grant 332971
6 · The paper itself

Abstract

Essential Tremor is a prevalent neurological disorder of unknown etiology. Studies suggest that genetic factors contribute to this pathology. To date, no causative mutations in a gene have been reproducibly reported. All three structures of the olivocerebellar motor circuitry have been linked to Essential Tremor. We postulated that genes enriched for their expression in the olivocerebellar circuitry would be more susceptible to harbor mutations in Essential Tremor patients. A list of 11 candidate genes, enriched for their expression in the olivocerebellar circuitry, was assessed for their variation spectrum and frequency in a cohort of Canadian Essential Tremor cases. Our results from this list of 11 candidate genes do not support an association for Essential Tremor in our cohort of Canadian cases. The heterogenic nature of ET and modest size of the cohort used in this study are two confounding factors that could explain these results.

Indexed as

Conserved SequencePhylogenyAgedCanadaCerebellumEssential TremorGenetic Association StudiesHumansMiddle AgedMotor CortexMutation, MissenseCerebellumEssential TremorGeneticsInferior oliveMovement disorder

Identifiers

PMID30315477

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.