Evidence map›Paper›PMID 39040918›Full record

ArticleNeurology. Genetics2024

A Novel Pattern of Dystonia in DYT-

Clément Desjardins, Cécile Delorme, Aurélie Méneret, Constance Flamand, Nathalie Leveque, Jean-Madeleine De Sainte Agathe, Emmanuel Roze, Marie Vidailhet

Abstract read
PubMed Full text at PMC Publisher
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Review
  2. Review
  3. Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  4. Tremor and other hyperkinetic movements (New York, N.Y.) · 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

8 authors.

Clément DesjardinsFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.ORCID https://orcid.org/0000-0003-1569-9590
Cécile DelormeFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.
Aurélie MéneretFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.ORCID https://orcid.org/0000-0002-7623-1142
Constance FlamandFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.
Nathalie LevequeFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.
Jean-Madeleine De Sainte AgatheFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.ORCID https://orcid.org/0000-0002-7753-8226
Emmanuel RozeFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.ORCID https://orcid.org/0000-0001-9727-3459
Marie VidailhetFrom the AP-HP (C. Desjardins, Cécile Delorme, A.M., N.L., E.R., M.V.), Salpetriere Hospital; Sorbonne Université (C. Delorme, A.M., E.R., M.V.), Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Hôpital Salpetriere, DMU Neuroscience 6, Paris; Service de neurologie (C.F.), Centre Hospitalier du Sud Francilien, Corbeil Essonnes; Laboratoire de Phonétique et Phonologie (CNRS/University Sorbonne-Nouvelle) Paris (N.L.); Department of Medical Genetics (J.-M.D.S.A.), Groupe Hospitalo-Universitaire Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France; and Laboratoire de Médecine Génomique Sorbonne Université (J.-M.D.S.A.), Groupement de Coopération Sanitaire SeqOIA.ORCID https://orcid.org/0000-0002-2409-9143

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To expand the phenotype and genotype of Methods: We report 2 patients with previously unreported Results: The 2 patients, who were unrelated, presented with early-onset orofacial dystonia with prominent tongue involvement. Case 1, a 37-year-old woman, developed disabling orofacial dystonia, with tongue protrusion (lingual dystonia), orofacial gesticulations, and hyperkinetic dysarthria, responsible for an odd "foreign language" quality. Case 2, a 36-year-old woman, exhibited orofacial dystonia with prominent lingual involvement and orofacial gesticulations. In both patients, orofacial dystonia led to predominant speech impairment with no or discrete swallowing difficulties. Discussion: Substantial tongue dystonia may be a distinctive feature of DYT-

Identifiers

PMID39040918
PMCPMC11262712

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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.