Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Jul 8;10(4):e200154.
doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.

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

Clément Desjardins  1 , Cécile Delorme  1 , Aurélie Méneret  1 , Constance Flamand  1 , Nathalie Leveque  1 , Jean-Madeleine De Sainte Agathe  1 , Emmanuel Roze  1 , Marie Vidailhet  1
Affiliations

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

Clément Desjardins et al. Neurol Genet. .

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.

PubMed Disclaimer

Conflict of interest statement

The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures.

Figures

Figure
Figure. Family Pedigrees of the 2 Cases
Black fillings indicate affected status by dystonia. The following symbols indicate the patients who underwent whole-genome sequencing: m/+ and +/+ for variant carriers and nonvariant carriers, respectively.
See this image and copyright information in PMC

References

    1. Steel D, Zech M, Zhao C, et al. . Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early onset dystonia associated with lysosomal abnormalities. Ann Neurol. 2020;88(5):867-877. doi:10.1002/ana.25879 - DOI - PubMed
    1. Pullman M, Raymond D, Molofsky W, et al. . Clinical and Pathological Characterization of VPS16 Dystonia (P11-11.005). Wednesday, April 26 [online]. Lippincott Williams & Wilkins; 2023:2737. Accessed June 10, 2023. neurology.org/lookup/doi/10.1212/WNL.0000000000202761 - DOI
    1. Pott H, Brüggemann N, Reese R, et al. . Truncating VPS16 mutations are rare in early onset dystonia. Ann Neurol. 2021;89(3):625-626. doi:10.1002/ana.25990 - DOI - PubMed
    1. Cai X, Chen X, Wu S, et al. . Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia. Sci Rep. 2016;6:25834. doi:10.1038/srep25834 - DOI - PMC - PubMed
    1. Li X-Y, Wang L, Guo Y, Wan X-H. Mutations in the VPS16 gene in 56 early-onset dystonia patients. Mov Disord. 2021;36(3):780-781. doi:10.1002/mds.28540 - DOI - PubMed

LinkOut - more resources