title: Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?
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.
authors.affiliation: Department of Genetics, University Medical Center Groningen, University of Groningen , Groningen , Netherlands.
authors.forename: Dineke S
authors.initials: DS
authors.lastname: Verbeek
authors.affiliation: Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE) , Tübingen , Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Gasser
keywords: GWAS; dystonia; genetics; variant validation; whole-exome sequencing