Evidence map›Paper›PMID 40134721›Full record

ArticleFrontiers in genetics2025

Retrospective chart review of inherited and idiopathic dystonia.

A Alakkas, H Shinawi, J A Bajwa, O Alsinaidi, A Al-Hashim

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

A AlakkasMovement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
H ShinawiMovement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
J A BajwaMovement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
O AlsinaidiMovement Disorders Program, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
A Al-HashimDepartment of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dystonia prevalence and presentation varies both ethnically and geographically. There is a paucity of data on the clinical presentation of dystonia patients in Saudi Arabia and among Arabs. In this study we provide the largest description of dystonia patients in Saudi Arabia. In our population, majority, 42% of all patients with dystonia had an inherited dystonia, while 34.8% had idiopathic dystonia. In addition, we found 3 patients with homozygous GCH1 variants who displayed the classic phenotype of dopa-responsive dystonia. Two had Variant of Uncertain Significance that has been recently reclassified as likely pathogenic, and another novel homozygous Asp119Asn variant, not previously reported in ClinVar. It is the hope that this paper would be the first step for future prospective studies.

Indexed as

dystoniaGCH1 variantsgeneticsinheritedmiddle east

Identifiers

PMID40134721
PMCPMC11933036

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.