Evidence map›Paper›PMID 24372973›Full record

SynthesisEuropean journal of neurology2014

The microtubule associated protein tau H1 haplotype and risk of essential tremor.

L N Clark, X Liu, N L Parmalee, N Hernandez, E D Louis

Abstract readMeta-Analysis
In one paragraph

Synthesis in European journal of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.0field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Tau Isoform Profile in Essential Tremor Diverges From Other Tauopathies.Journal of neuropathology and experimental neurology · 2021
    Article
  2. Genetic Risk Factors for Essential Tremor: A Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020
    Review
  3. Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy.Laboratory investigation; a journal of technical methods and pathology · 2019
    Review
  4. Essential tremor.Handbook of clinical neurology · 2018
    Review
  5. The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease.Journal of neural transmission (Vienna, Austria : 1996) · 2016
    Article
  6. 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

5 authors at 2 institutions in 1 country.

L N ClarkTaub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA; Center for Human Genetics, Columbia University, New York, NY, USA.
X Liu
N L Parmalee
N Hernandez
E D Louis
Columbia University · USCenter for Human Genetics · US

Funding

Satellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3M
TRANSLATIONAL APPROACHES TO NEUROPROTECTION OF AXONS IN PDrP50NS038370 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BURKE, ROBERT E · 1999 to 2014
$24.0M
ENVIRONMENTAL EPIDEMIOLOGY OF ESSENTIAL TREMORR01NS039422 · NINDS · YALE UNIVERSITY · PI LOUIS, ELAN D · 2000 to 2013
$7.7M
Identification of Susceptibility Genes for Essential TremorR01NS073872 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLARK, LORRAINE N, LOUIS, ELAN D · 2011 to 2019
$7.4M
GENETIC EPIDEMIOLOGY OF PARKINSONS DISEASER01NS036630 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARDER, KAREN S · 1998 to 2008
$6.8M
NEUROEPIDEMIOLOGY TRAINING PROGRAMT32NS007153 · NINDS · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI GU, YIAN, WILLEY, JOSHUA ZEBADIAH · 1987 to 2023
$6.2M
Pathogenesis Of Essential Tremor: Cerebellar MetabolismR01NS042859 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LOUIS, ELAN D · 2003 to 2012
$4.9M
Molecular Genetic Analysis of Lysosomal Storage Disorder Genes in PDR01NS060113 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLARK, LORRAINE N · 2008 to 2011
$1.4M
Essential Tremor: Gene expression profiling in cerebellar Purkinje cellsR21NS077094 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI FAUST, PHYLLIS L · 2011 to 2012
$440k
Beta-glucocerebrosidase Mutations and PD in the AshkenazimR21NS050487 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLARK, LORRAINE N · 2005 to 2006
$368k
NIA NIH HHS P50 AG008702NIA NIH HHS P50AG008702NINDS NIH HHS P50 NS038370NINDS NIH HHS R01 NS036630NINDS NIH HHS R01 NS039422NINDS NIH HHS R01 NS042859NINDS NIH HHS R01 NS060113NINDS NIH HHS R01NS060113NINDS NIH HHS R01NS0738072NINDS NIH HHS R01 NS073872NINDS NIH HHS R01 NS36630NINDS NIH HHS R01 NS39422NINDS NIH HHS R21 NS050487NINDS NIH HHS R21NS050487NINDS NIH HHS R21 NS077094NINDS NIH HHS R21NS077094NINDS NIH HHS T32 NS007153NINDS NIH HHS T32 NS07153-24
6 · The paper itself

Abstract

background and purposeTwo recent studies investigated the association of the microtubule associated protein tau (MAPT) H1 haplotype, a known risk factor for neurodegenerative disease including progressive supranuclear palsy and Parkinson's disease (PD), with essential tremor (ET).

methodsTo confirm this association in a different population the distribution of allele and genotype frequencies for the MAPT H1/H2 tagging single-nucleotide polymorphism (SNP) rs1052553 in ET cases and controls enrolled in a clinical-epidemiological study of ET at Columbia University was analyzed.

resultsOverall, no association was observed between ET and the MAPT H1 haplotype. The analysis was also restricted to clinical subtypes including early-onset (≤40 years of age), Ashkenazi Jewish ancestry, white non-Ashkenazi, or ET cases with a 'definite' or 'probable/possible' diagnosis; none of these stratified analyses showed evidence of association with ET. A meta-analysis of the H1/H2 tagging SNP rs1052553 in published data sets and the H1 haplotype with risk for ET in the current study was also performed and did not find evidence for association.

conclusionsThe inconsistent reports of association of MAPT H1 in three emerging studies (our own and two published studies) may reflect sampling issues and/or clinical heterogeneity in these populations.

Indexed as

Case-Control StudiesEssential TremorHaplotypesHumansPolymorphism, Single NucleotideRisktau Proteinstau Proteinscandidate genescase−control studyessential tremormicrotubule associated protein tausingle nucleotide polymorphisms

Identifiers

PMID24372973
PMCPMC4057305
OpenAlexW2070997009

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.