Pathology of the dystonias

Ruth H. Walker, Kevin St P. McNaught, Daniel P. Perl

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


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.

Original languageEnglish
Title of host publicationHandbook of Dystonia
Subtitle of host publicationSecond Edition
PublisherCRC Press
Number of pages27
ISBN (Electronic)9781841848525
ISBN (Print)9781584889748
StatePublished - 1 Jan 2012


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