ABSTRACT
INTRODUCTION Despite signifi cant advances in molecular etiologies of dystonia in the past 5 years (1), there have not been signifi cant advances in neuropathology (2). A major problem is the limited availability of postmortem tissue from patients with either primary or secondary dystonia (Table 6.1). Additional factors are that only a small number of genes responsible for these disorders have been identifi ed, and many of the primary dystonias and dystonia-plus syndromes, such as DYT2, 4, 7, 13, 15, 17, and 21 have been identifi ed at best by linkage only. 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 to specifi c neurodegeneration.
