TorsinA-interacting protein 2 (TOR1AIP2) variants in an autosomal dominant combined dystonia-hemichorea-hemiballismus syndrome in two families
Background: Combined movement disorders often represent a diagnostic challenge. Dystonia is a movement disorder characterized by genetic and clinical heterogeneity. A recurring p.(Glu303del)-deletion in TOR1A is a well-established cause for DYT-TOR1A (DYT1) dystonia. TOR1A encodes TorsinA, an AAA+ ATPase located in the nuclear envelope. Hemichorea-hemiballismus syndrome can occur after basal gangl
