Evidence map›Paper›PMID 31211168›Full record

Observational studyAnnals of clinical and translational neurology2019

Phenotype-genotype discrepancies in the prospective Huntington at-risk observational study.

Ira Shoulson, Shirley Eberly, David Oakes, Elise Kayson, Anne B Young, PHAROS Investigators

Open access · goldAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 48% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

6 authors at 2 institutions in 1 country.

Ira ShoulsonUniversity of Rochester Medical Center Rochester New York.
Shirley EberlyUniversity of Rochester Medical Center Rochester New York.
David OakesUniversity of Rochester Medical Center Rochester New York.
Elise KaysonUniversity of Rochester Medical Center Rochester New York.
Anne B YoungMassachusetts General Hospital Boston Massachusetts.
PHAROS Investigators
University of Rochester Medical Center · USMassachusetts General Hospital · US

Funding

Prospective Huntington At Risk Observational Study (PHAROS)R01HG002449 · NHGRI · UNIVERSITY OF ROCHESTER · PI SHOULSON, IRA · 2002 to 2009
$7.6M
NHGRI NIH HHS R01 HG002449
6 · The paper itself

Abstract

objectiveTo examine phenotype-genotype discrepancies (PGDs) wherein genotype-concealed and prospective judgments of the motor onset of Huntington disease (HD) occurred among at-risk adults who had nonexpanded (<37) cytosine-adenine-guanine (CAG) trinucleotide DNA repeats.

methodsWe examined the prospective clinical assessments of investigators who were kept unaware of individual CAG lengths in the Prospective Huntington At-Risk Observational Study (PHAROS) who enrolled and followed undiagnosed adults at risk for HD who chose not to learn their gene status. Subjects (

resultsThere were 20 PGDs that over time had less severe motor scores than the 101 phenoconversions with CAG ≥37, but more severe motor scores than nonconversions. Following conversion, subjects with CAG ≥37 expansions worsened more motorically and cognitively than PGD subjects in the < 37 group. PGDs were concentrated among three sites and a few investigators, especially raters who only assessed the motor examination.

interpretationThe ability to detect the clinical onset of HD in a timely and reliable fashion remains the key for developing experimental treatments aimed at postponing the clinical onset of HD. Comprehensive clinical evaluation is a more accurate and reliable basis for determining HD clinical onset than sole reliance on judging the extrapyramidal features of HD.

Indexed as

AdolescentAdultCanadaFemaleGenetic Predisposition to DiseaseGenotypeHumansHuntington DiseaseMaleMiddle AgedMovement DisordersPhenotypeProspective StudiesRisk FactorsTrinucleotide RepeatsUnited States

Identifiers

PMID31211168
PMCPMC6562068
OpenAlexW2943567011

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.