Inherited dystonias: clinical features and molecular pathways

Corinne E. Weisheit, Samuel S. Pappas, William T. Dauer

Research output: Chapter in Book/Report/Conference proceedingChapter

7 Scopus citations

Abstract

Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia – a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations. Studies of genetic forms of dystonia are also illuminating the developmental dependence of disease symptoms that is typical of many forms of the disease. As understanding of monogenic forms of dystonia grows, a clearer picture will develop of the abnormal motor circuitry behind this relatively common phenomenology. This chapter focuses on the current data covering the etiology and epidemiology, clinical presentation, and pathogenesis of four monogenic forms of isolated dystonia: DYT-TOR1A, DYT-THAP1, DYT-GCH1, and DYT-GNAL.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages241-254
Number of pages14
DOIs
StatePublished - Jan 1 2018
Externally publishedYes

Publication series

NameHandbook of Clinical Neurology
Volume147
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Keywords

  • basal ganglia
  • Dystonia
  • DYT1
  • DYT25
  • DYT5
  • DYT6
  • GCH1
  • GNAL
  • THAP1
  • TOR1A
  • TorsinA

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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  • Cite this

    Weisheit, C. E., Pappas, S. S., & Dauer, W. T. (2018). Inherited dystonias: clinical features and molecular pathways. In Handbook of Clinical Neurology (pp. 241-254). (Handbook of Clinical Neurology; Vol. 147). Elsevier B.V.. https://doi.org/10.1016/B978-0-444-63233-3.00016-6