DYT30: Dystonia 30

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT30: Dystonia 30. This results from mutations of the VPS16 gene. This encodes a subunit of the HOPS complex. Fully referenced neurology checklist.

Genetics

  • This results from mutations of the VPS16 gene
  • This encodes a subunit of the HOPS complex
  • This is involved in autophagosome-lysosome fusion
  • The transmission is typically autosomal dominant

Course

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Clinical features

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Associated movement disorders

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Associated neuropsychiatric features

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Differential diagnosis of orofacial dystonia

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Magnetic resonance imaging (MRI) brain

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Treatment

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Synonym

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References

  1. Desjardins C, Delorme C, Méneret A, et al. A novel pattern of dystonia in DYT-VPS16: "speaking in tongues". Neurol Genet 2024; 10:e200154.
  2. 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; 88:867-877.
  3. Pott H, Brüggemann N, Reese R, et al. Truncating VPS16 mutations are rare in early onset dystonia. Ann Neurol 2021; 89:625-626.
  4. Monfrini E, Avanzino L, Palermo G, et al. Dominant VPS16 pathogenic variants: not only isolated dystonia. Mov Disord Clin Pract 2024; 11:87-93.
  5. Gu X, Lin J, Hou Y, Zhang L, Shang H. De novo missense mutation of VPS16 in a Chinese patient with generalized dystonia with myoclonus. Mov Disord Clin Pract 2021; 9:551-552.
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