Evidence map›Paper›PMID 41504894›Full record

ArticleNeurogenetics2026

Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.

Silvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, Stéphane Bézieau, Philippe Bordure, Florent Espitalier, Irina Viakhireva-Dovganyuk, Alain Verloes, Marie-Laure Vuillaume, Salim Khiati and 2 more

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In one paragraph

Article in Neurogenetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

12 authors.

Silvestre CuinatService de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France. silvestre.cuinat@inserm.fr.
Tiphaine RouaudService de Neurologie, CHU de Nantes, Nantes, France.
Thomas BesnardService de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
Stéphane BézieauService de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.
Philippe BordureService d'ORL, CHU de Nantes, Nantes, France.
Florent EspitalierService d'ORL, CHU de Nantes, Nantes, France.
Irina Viakhireva-DovganyukService de Neurologie, CHU de Brest, Brest, France.
Alain VerloesService de Génétique Clinique, APHP Robert Debré, Paris, France.
Marie-Laure VuillaumeService de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.
Salim KhiatiMitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France.
Vincent ProcaccioMitoVasc Institute, Angers University, UMR CNRS 6015, INSERM U1083, Angers, France.
Sandra MercierService de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dystonia-deafness syndrome 1 (DDS1) is a rare disorder caused by the p.(Arg183Trp) heterozygous variant in ACTB. Patients present with congenital/early-onset sensorineural deafness, then childhood/adult-onset generalized dystonia. We describe a 38 y.o patient with additional features, including brain malformations: corpus callosum and vermis hypodysplasia. These novel features expand the clinical spectrum of DDS1, and suggests an overlap with ACTB-related Baraitser-Winter syndrome. Furthermore, we report a limited improvement after Globus Pallidus internus Deep Brain Stimulation (GPi-DBS) contrary to previous publications, bringing a novel message in terms of prognosis.

Indexed as

ActinsDeafnessDystoniaDystonic DisordersHearing Loss, SensorineuralAdultDeep Brain StimulationHumansMaleMutationPhenotypeActinsACTBBeta-actinDeafnessDeep brain stimulationDystonia

Identifiers

PMID41504894

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.