Evidence map›Paper›PMID 42855741›Full record

ArticleAnnals of clinical and translational neurology2026

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant.

Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici

Abstract readCase Reports
In one paragraph

Article in Annals of clinical and translational neurology, 2026. 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
–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

1 citing paper in PubMed.

  1. 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

8 authors.

Melisa KilicDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye.ORCID https://orcid.org/0000-0001-9633-7190
Petr DusekDepartment of Neurology, Charles University 1st Faculty of Medicine, Prague, Czech Republic.ORCID https://orcid.org/0000-0003-4877-9642
Ibrahim KamaciDepartment of Neurology, Istanbul University Faculty of Medicine, Istanbul, Türkiye.ORCID https://orcid.org/0009-0008-8489-8095
Bahar GulmezDepartment of Neurology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.ORCID https://orcid.org/0000-0003-4014-4079
Gul Yalcin CakmakliDepartment of Neurology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.ORCID https://orcid.org/0000-0001-8545-7939
Ersin TanDepartment of Neurology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.ORCID https://orcid.org/0000-0001-8418-2961
Sibel Ugur IseriDepartment of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Türkiye.ORCID https://orcid.org/0000-0002-5790-6853
Zuhal YapiciDepartment of Neurology, Istanbul University Faculty of Medicine, Istanbul, Türkiye.ORCID https://orcid.org/0000-0002-9349-565X

Funding

Bilimsel Araştirma Projeleri Birimi, Istanbul Üniversitesi TYL-2024-40633Istanbul Kalkinma Ajansi TR10/22/THNTürkiye Bilimsel ve Teknolojik Araştırma Kurumu 2210-A
6 · The paper itself

Abstract

TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood-onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift variant identified by whole genome sequencing. Quantitative brain MRI demonstrated numerically increased globus pallidus susceptibility and reduced volume compared with controls, without clear evidence of iron accumulation. This case further supports generalized dystonia as a recognizable manifestation of TCF20-related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.

Indexed as

dystoniaframeshift varianthyperkinetic movement disorderTCF20

Identifiers

PMID42855741
PMCPMC13652969

What OpenQuestion holds

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Registered trials

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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.