Basal Ganglia Disorders

Chapter

Abstract

  • © 2014 Elsevier Inc. All rights reserved.Basal ganglia disorders, which include Parkinson Disease (PD), dystonia, Huntington disease (HD), and Tourrette Syndrome (TS), are a class of diseases defined by dysfunction of the subcortical circuits that regulate movement and posture. The most frequent of these diseases is PD, a hypokinetic condition. Most cases of PD are thought to be sporadic, but recent work has uncovered numerous genes as important genetic risk factors (designated PARK1-PARK18). Dystonia is a clinical syndrome with multiple causes. More than a dozen distinct genes have been described that can produce forms of primary dystonia. As a group, the dystonias lack neuropathological changes but are associated with abnormalities in brain connectivity and activation. HD is inherited in an autosomal dominant fashion, arising from an expanded CAG repeat in the Huntington gene and leads to degeneration of the basal ganglia and other structures, chorea and dementia. TS is thought to have a genetic basis, but the genes involved have remained, for the most part, elusive to identify. Together, these disorders represent a range of different pathologies that result in symptoms related to disordered movement.
  • Digital Object Identifier (doi)

    International Standard Book Number (isbn) 13

  • 9780128012383