DYT32: Dystonia 32

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

DYT32: Dystonia 32. This results from mutations in the VSP11 gene on chromosome 11. Fully referenced neurology checklist.

Genetics

  • This results from mutations in the VSP11 gene on chromosome 11
  • VPS11 is a subunit of the homotypic fusion and protein sorting (HOPS)
  • VPS11 is also linked with hypomyelinating leukodystrophy 12 (HLD12)
  • The transmission is autosomal recessive

Clinical features

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Magnetic resonance imaging (MRI) brain

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Treatment

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References

  1. Monfrini E, Cogiamanian F, Salani S, et al. A novel homozygous VPS11 variant may cause generalized dystonia. Ann Neurol 2021; 89:834-839. 

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