DYT30: Dystonia 30

Evidence-based neurology checklist on dyt30: dystonia 30: 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 Clinical features Associated…

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

Clinical features

Associated movement disorders

Associated neuropsychiatric features

Differential diagnosis of orofacial dystonia

Magnetic resonance imaging (MRI) brain

Treatment

Synonym

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.
  6. And 2 more. Subscribe to see the full list

Related checklists

Loading...