Abnormal circuit function in dystonia

摘要

Dystonia is a movement disorder characterized by abnormal involuntary muscle contractions that cause abnormal sustained postures and movements. The causes of dystonia are many, including genetic mutations, focal injuries to the nervous system, metabolic disorders, and exogenous toxins. When a focal site can be identified, the most common site of injury is in the basal ganglia. However, there is mounting evidence that dystonia results from dysfunction of neural circuits rather than from dysfunction of neurons in a single nucleus. In dystonia, basal ganglia dysfunction can manifest as impaired physiologic function at multiple levels of the CNS. Thus, physiologic measures of cortical, brainstem, and spinal cord function may be abnormal even though the primaryabnormality is in the basal ganglia.