Recent advances in the genetics of dystonia

Jianfeng Xiao, Satya R. Vemula, Mark Ledoux

Research output: Contribution to journalReview article

7 Citations (Scopus)

Abstract

Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as "a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both." Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several "novel" genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years. These genes include PRRT2 (DYT10), CIZ1 (DYT23), ANO3 (DYT24), GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most cases of adult-onset isolated dystonia. Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. This review focuses on these recent additions to the family of dystonia genes, genotype-phenotype correlations, and possible cellular contributions of the encoded proteins to the development of dystonia.

Original languageEnglish (US)
Article number462
JournalCurrent Neurology and Neuroscience Reports
Volume14
Issue number8
DOIs
StatePublished - Jan 1 2014

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Dystonia
Dystonic Disorders
Movement Disorders
Golf
Exome
Genetic Association Studies
Muscle Contraction
Nervous System Diseases
Posture
Genes
Proteins

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Recent advances in the genetics of dystonia. / Xiao, Jianfeng; Vemula, Satya R.; Ledoux, Mark.

In: Current Neurology and Neuroscience Reports, Vol. 14, No. 8, 462, 01.01.2014.

Research output: Contribution to journalReview article

Xiao, Jianfeng ; Vemula, Satya R. ; Ledoux, Mark. / Recent advances in the genetics of dystonia. In: Current Neurology and Neuroscience Reports. 2014 ; Vol. 14, No. 8.
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