X-linked torsion dystonia 3 (X-linked dystonia-parkinsonism)

Pathology

• movement disorder

Genetics

• caused by a short interspersed nuclear element variable number of tandem repeats & Alu composite retrotransposon insertion in intron 32 of the TAF1 gene

Clinical manifestations

• severe progressive torsion dystonia followed by parkinsonism

More general terms

• X-linked torsion dystonia