Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?

Dineke S. Verbeek, Thomas Gasser*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

5 Citations (Scopus)
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Abstract

Genetic findings of the past years have provided ample evidence for a substantial etiologic heterogeneity of dystonic syndromes. While an increasing number of genes are being identified for Mendelian forms of isolated and combined dystonias using classical genetic mapping and whole-exome sequencing techniques, their precise role in the molecular pathogenesis is still largely unknown. Also, the role of genetic risk factors in the etiology of sporadic dystonias is still enigmatic. Only the systematic ascertainment and precise clinical characterization of very large cohorts with dystonia, combined with systematic genetic studies, will be able to unravel the complex network of factors that determine disease risk and phenotypic expression.

Original languageEnglish
Article number241
Number of pages8
JournalFrontiers in Neurology
Volume7
DOIs
Publication statusPublished - 16-Jan-2017

Keywords

  • dystonia
  • genetics
  • GWAS
  • whole-exome sequencing
  • variant validation
  • GENOME-WIDE ASSOCIATION
  • DOPA-RESPONSIVE PARKINSONISM
  • MYOCLONUS-DYSTONIA
  • CERVICAL DYSTONIA
  • TORSION DYSTONIA
  • HUMAN-DISEASE
  • RISK LOCI
  • MUTATIONS
  • VARIANTS
  • PHENOTYPE

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