Pathology of the dystonias

INTRODUCTION Despite significant advances in molecular etiologies of dystonia in the past 5 years (1), there have not been significant 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 identified, and many of the primary dystonias and dystonia-plus syndromes, such as DYT2, 4, 7, 13, 15, 17, and 21 have been identified 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 specific neurodegeneration.