ABSTRACT
Relatively little is known about the neuropathology of the primary dystonias because of the very limited availability of post mortem tissue (Table 1). Additional factors are that only a small number of genes responsible for these disorders have been identified, and many of the primary dystonias and dystonia-plus syndromes such as DYT4, DYT6, DYT7, DYT13, and DYT15 have been identified by linkage only, and in some cases, not even that. In general, neuroimaging studies indicate that any structural changes are minor, and that the pathophysiology of dystonia is more likely related to functional changes rather than specific neurodegeneration.
