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DYT1 early-onset generalized dystonia is a hyperkinetic movement disorder caused by mutations in  DYT1  ( TOR1A ), which codes for torsinA. Recently, significant progress has been made in studying pathophysiology of DYT1 dystonia using targeted mouse models.  Dyt1  ΔGAG heterozygous knock-in (KI) and  Dyt1  knock-down (KD) mice exhibit motor deficits and alterations of striatal dopamine metabolisms, while  Dyt1  knockout (KO) and  Dyt1  ΔGAG homozygous KI mice show abnormal nuclear envelopes and neonatal lethality. However, it has not been clear whether motor deficits and striatal abnormality are caused by  Dyt1  mutation in the striatum itself or the end results of abnormal signals from other brain regions. To identify the brain region that contributes to these phenotypes, we made a striatum-specific  Dyt1  conditional knockout ( Dyt1  sKO) mouse.  Dyt1  sKO mice exhibited motor deficits and reduced striatal dopamine receptor 2 (D2R) binding activity, whereas they did not exhibit significant alteration of striatal monoamine contents. Furthermore, we also found normal nuclear envelope structure in striatal medium spiny neurons (MSNs) of an adult  Dyt1  sKO mouse and cerebral cortical neurons in cerebral cortex-specific  Dyt1  conditional knockout ( Dyt1  cKO) mice. The results suggest that the loss of striatal torsinA alone is sufficient to produce motor deficits, and that this effect may be mediated, at least in part, through changes in D2R function in the basal ganglia circuit.

Motor Deficits and Decreased Striatal Dopamine Receptor 2 Binding Activity in the Striatum-Specific Dyt1 Conditional Knockout Mice