DYT32: Dystonia 32

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

Magnetic resonance imaging (MRI) brain

Treatment

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. 

Related checklists

• DYT15: Myoclonic dystonia 15
• DYT16: Autosomal recessive dystonia-parkinsonism
• DYT17: Early onset autosomal recessive dystonia
• DYT18: Paroxysmal exercise-induced dyskinesia (PED)
• DYT19: Paroxysmal kinesigenic dyskinesia 2 (PKD2)
• DYT20: Paroxysmal non-kinesigenic dyskinesia 2 (PNKD2)
• DYT21: Late onset dystonia
• DYT22: Dystonia 22
• DYT23: Dystonia 23
• DYT24: Dystonia 24
• DYT25: Cervical dystonia with local spread
• DYT26: Myoclonic dystonia 26
• DYT27: Dystonia 27
• DYT28: Dystonia 28
• DYT29: Dystonia 29
• DYT30: Dystonia 30
• DYT31: Dystonia 31
• DYT33: Dystonia 33
• DYT34: Dystonia 34
• DYT35: Dystonia 35