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Publication Detail
Review: genetics and neuropathology of primary pure dystonia.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Journal Article
  • Authors:
    Paudel R, Hardy J, Revesz T, Holton JL, Houlden H
  • Publication date:
  • Pagination:
    520, 534
  • Journal:
    Neuropathol Appl Neurobiol
  • Volume:
  • Issue:
  • Status:
  • Country:
  • Language:
  • Keywords:
    Apoptosis Regulatory Proteins, Brain, DNA-Binding Proteins, Dystonic Disorders, Humans, Molecular Chaperones, Nuclear Proteins
Neuropathology has been the key to understanding the aetiology of many neurological disorders such as Alzheimer's disease, Parkinson's disease, frontotemporal degeneration and cerebellar ataxias. Dystonia shares many clinical features with these conditions but research in general, has been unrewarding in providing information on disease processes. Neuropathological studies are few in number and only limited morphological abnormalities have been described. In the genetic literature, dystonia loci are represented as DYT and are assigned ascending numerals chronologically as they are identified. This review will concentrate on the neuropathology of primary pure dystonia, focusing on DYT1 and DYT6 and the correlation between clinical and genetic findings. Research in this area is incomplete and confounded by the rarity of post mortem brain tissue. However, recent findings, indicating a direct interaction between the torsinA (TOR1A) gene responsible for DYT1 and the thanatos-associated domain-containing apoptosis-associated protein 1 (THAP1) gene responsible for DYT6, have important implications in understanding these two entities and also for other members of this group of disorders.
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