A Novel Pattern of Dystonia in DYT- VPS16: "Speaking in Tongues"

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

doi:10.1212/NXG.0000000000200154

A Novel Pattern of Dystonia in DYT- VPS16: "Speaking in Tongues"

Neurol Genet. 2024 Jul 8;10(4):e200154. doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.

Authors

Clément Desjardins¹, Cécile Delorme¹, Aurélie Méneret¹, Constance Flamand¹, Nathalie Leveque¹, Jean-Madeleine De Sainte Agathe¹, Emmanuel Roze¹, Marie Vidailhet¹

Affiliation

¹ From 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.

Abstract

Objectives: To expand the phenotype and genotype of VPS16-related dystonia (DYT-VPS16).

Methods: We report 2 patients with previously unreported VPS16 truncating variants and highlight some distinctive phenomenological characteristics of DYT-VPS16.

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-VPS16. Our cases widen the phenotypic spectrum of DYT-VPS16 and may provide physicians with a new clinical clue for this disease.