Recent decades have witnessed dramatic increases in understanding of the genetics of
dystonia–a movement disorder characterized by involuntary twisting and abnormal posture.
Hampered by a lack of overt neuropathology, researchers are investigating isolated
monogenic causes to pinpoint common molecular mechanisms in this heterogeneous
disease. Evidence from imaging, cellular, and murine work implicates deficiencies in
dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of …