Dystonia and the cerebellum: A new field of interest in movement disorders?

Although dystonia has traditionally been regarded as a basal ganglia dysfunction, recent provocative evidence has emerged of cerebellar involvement in the pathophysiology of this enigmatic disease. This review synthesizes the data suggesting that the cerebellum plays an important role in dystonia etiology, from neuroanatomical research of complex networks showing that the cerebellum is connected to a wide range of other central nervous system structures involved in movement control to animal models indicating that signs of dystonia are due to cerebellum dysfunction and completely disappear after cerebellectomy, and finally to clinical observations in secondary dystonia patients with various types of cerebellar lesions. We propose that dystonia is a large-scale dysfunction, involving not only cortico-basal ganglia-thalamo-cortical pathways, but the cortico-ponto-cerebello-thalamo-cortical loop as well. Even in the absence of traditional “cerebellar signs” in most dystonia patients, there are more subtle indications of cerebellar dysfunction. It is clear that as long as the cerebellum’s role in dystonia genesis remains unexamined, it will be difficult to significantly improve the current standards of dystonia treatment or to provide curative treatment.

► Dystonia is traditionally considered as a basal ganglia disease, even if there is strong evidence of cerebellum dysfunction. ► Cerebellum is involved in complex neuronal networks where dysfunction in any node can lead to complex compensatory reactions of all the nodes, manifesting as diverse spectrum of clinical signs. ► Even in absence of typical cerebellar signs in dystonia patients, there are more subtle indications of cerebellar dysfunction and imaging correlates.