The Genetics of Dystonias

Research output: Chapter in Book/Report/Conference proceedingChapter

25 Citations (Scopus)

Abstract

Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neurometabolic disorders. Etiological categories include primary dystonia, secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Most primary dystonia begins in adults, and approximately 10% of probands report one or more affected family members. Many cases of childhood- and adolescent-onset dystonia are due to mutations in TOR1A and THAP1. Mutations in THAP1 and CIZ1 have been associated with sporadic and familial adult-onset dystonia. Although significant recent progress had been made in defining the genetic basis for most of the dystonia-plus and heredodegenerative diseases with dystonia, a major gap remains in understanding the genetic etiologies for most cases of adult-onset primary dystonia. Common themes in the cellular biology of dystonia include G1/S cell cycle control, monoaminergic neurotransmission, mitochondrial dysfunction, and the neuronal stress response.

Original languageEnglish (US)
Title of host publicationAdvances in Genetics
PublisherAcademic Press Inc.
Pages35-85
Number of pages51
DOIs
StatePublished - Jan 1 2012

Publication series

NameAdvances in Genetics
Volume79
ISSN (Print)0065-2660

Fingerprint

Dystonic Disorders
Dystonia
Mutation
Dyskinesias
Tremor
Muscle Contraction
Cell Cycle Checkpoints
Posture
Synaptic Transmission
Neurodegenerative Diseases
Smooth Muscle
Cell Biology

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Ledoux, M. (2012). The Genetics of Dystonias. In Advances in Genetics (pp. 35-85). (Advances in Genetics; Vol. 79). Academic Press Inc.. https://doi.org/10.1016/B978-0-12-394395-8.00002-5

The Genetics of Dystonias. / Ledoux, Mark.

Advances in Genetics. Academic Press Inc., 2012. p. 35-85 (Advances in Genetics; Vol. 79).

Research output: Chapter in Book/Report/Conference proceedingChapter

Ledoux, M 2012, The Genetics of Dystonias. in Advances in Genetics. Advances in Genetics, vol. 79, Academic Press Inc., pp. 35-85. https://doi.org/10.1016/B978-0-12-394395-8.00002-5
Ledoux M. The Genetics of Dystonias. In Advances in Genetics. Academic Press Inc. 2012. p. 35-85. (Advances in Genetics). https://doi.org/10.1016/B978-0-12-394395-8.00002-5
Ledoux, Mark. / The Genetics of Dystonias. Advances in Genetics. Academic Press Inc., 2012. pp. 35-85 (Advances in Genetics).
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