Evidence map›Paper›PMID 38486676›Full record

ArticleNeurology. Genetics2024

Novel

Eva Klinman, Catherine Gooch, Joel S Perlmutter, Albert A Davis, Baijayanta Maiti

Open access · goldAbstract read
In one paragraph

Article in Neurology. Genetics, 2024. 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
0.4field-weighted citation impact, top 42% 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, 1 citations in OpenAlex.

  1. SGCE Myoclonus Dystonia: A Case Report.Ethiopian journal of health sciences · 2025
    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 1 institution in 1 country.

Eva KlinmanFrom the Department of Neurology (E.K., J.S.P., A.A.D., B.M.); and Division of Genetics and Genomic Medicine (C.G.), Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
Catherine GoochFrom the Department of Neurology (E.K., J.S.P., A.A.D., B.M.); and Division of Genetics and Genomic Medicine (C.G.), Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
Joel S PerlmutterFrom the Department of Neurology (E.K., J.S.P., A.A.D., B.M.); and Division of Genetics and Genomic Medicine (C.G.), Department of Pediatrics, Washington University School of Medicine, St Louis, MO.ORCID https://orcid.org/0000-0003-3263-8917
Albert A DavisFrom the Department of Neurology (E.K., J.S.P., A.A.D., B.M.); and Division of Genetics and Genomic Medicine (C.G.), Department of Pediatrics, Washington University School of Medicine, St Louis, MO.ORCID https://orcid.org/0000-0003-2042-8445
Baijayanta MaitiFrom the Department of Neurology (E.K., J.S.P., A.A.D., B.M.); and Division of Genetics and Genomic Medicine (C.G.), Department of Pediatrics, Washington University School of Medicine, St Louis, MO.
Washington University in St. Louis · US

Funding

Dystonia CoalitionU54NS065701 · NINDS · EMORY UNIVERSITY · PI JINNAH, HYDER A · 2009 to 2014
$7.0M
RES FACIL CONST: NEUROSCIENCE: LANGUAGE, COGNITION &BEHAVIOR, PAIN, DEPRESSIONC06RR020092 · NCRR · WASHINGTON UNIVERSITY · PI STANLEY, SAMUEL · 2004 to 2004
$1.6M
Cerebellar cholinergic connections as a biomarker of dementia and gait impairment in Parkinson diseaseK23NS125107 · NINDS · WASHINGTON UNIVERSITY · PI Baijayanta Maiti · 2022 to 2026
$916k
NCRR NIH HHS C06 RR020092NINDS NIH HHS K23 NS125107NINDS NIH HHS U54 NS065701
6 · The paper itself

Abstract

Objectives: Characterize the presentation, workup, and management of Methods: A woman with myoclonus and dystonia was identified based on clinical history and physical examination. Workup was conducted to determine the cause of her symptoms, including whole-exome sequencing. Myoclonus-dystonia is associated with more than 100 distinct mutations in MYC/DYT Results: Childhood onset myoclonus and worsening dystonia with age were identified in a young woman. She underwent screening for common causes of twitching movements, followed by whole-exome sequencing which identified a de novo novel variant in the Discussion: Myoclonus-dystonia should be considered in patients with symptoms of head and upper extremity myoclonus early in life, especially with co-occurring dystonia, even in the absence of a family history of similar symptoms. Diagnosis of this condition should take place using sequencing, as new mutations continue to be discovered.

Identifiers

PMID38486676
PMCPMC10932734
OpenAlexW4392574276

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.