Evidence map›Paper›PMID 27066577›Full record

ArticleNeurology. Genetics2016

Benign hereditary chorea related to NKX2-1 with ataxia and dystonia.

Claudio M de Gusmao, Fernando Kok, Erasmo Barbante Casella, Jeff L Waugh

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

Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 33% 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

7 citing papers in PubMed, 12 citations in OpenAlex.

  1. International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.Movement disorders : official journal of the Movement Disorder Society · 2026
    Observational
  2. A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  3. Review
  4. Review
  5. Review
  6. Article
  7. Recent advances in genetics of chorea.Current opinion in neurology · 2016
    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

4 authors at 2 institutions in 1 country.

Claudio M de GusmaoDepartment of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
Fernando KokDepartment of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
Erasmo Barbante CasellaDepartment of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
Jeff L WaughDepartment of Neurology (C.M.d.G., J.L.W.), Massachusetts General Hospital, Boston, MA; Mendelics Genomic Analysis (F.K.), Sao Paulo, Brazil; Child Neurology Unit (E.B.C.), Children's Institute, Hospital das Clinicas, University of Sao Paulo, Sao Paulo, Brazil; and Department of Neurology (J.L.W.), Boston Children's Hospital, Boston, MA.
Genomic (Brazil) · BRMendelics · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Benign hereditary chorea (BHC) was originally described in 1967, but it was not until 2002 that linkage analysis and positional cloning identified the causative gene, NKX2-1 (also known as TTF-1).(1,2) The range of manifestations spans from isolated chorea, pulmonary disease, or thyroid dysfunction, with one-third of patients having the full brain-lung-thyroid syndrome.(3) Recent reports have expanded the NKX2-1 phenotype, as patients may present with additional movement disorders such as dystonia and myoclonus.(3) We present a case with early-onset chorea, ataxia, and dystonia.

Identifiers

PMID27066577
PMCPMC4817908
OpenAlexW2338846212

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.