Article
Genetics of dystonia: what's known? What's new? What's next?
Movement disorders : official journal of the Movement Disorder Society - 15 Jun 2013
Lohmann Katja, Klein Christine
Abstract excerpt
Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Isolated dystonia can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI...
Topics
- Dystonia
- Genetic Predisposition to Disease
- Humans
- Molecular Chaperones
- Mutation