Article
Genetics of primary torsion dystonia.
Current neurology and neuroscience reports - 1 May 2010
Brüggemann Norbert, Klein Christine
Abstract excerpt
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders. Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonias, 2) dystonia-plus syndromes, and 3) paroxysmal dystonias/dyskinesias. We summarize recently discovered genes and loci, including the 1) detection of...
Topics
- Carrier Proteins
- Dystonia Musculorum Deformans
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Mutation