Abstract
Early-onset torsion dystonia is a severe generalized form of primary dystonia, with most cases caused by a specific mutation (ΔGAG) in the DYT1 gene encoding torsinA. This mutation is autosomal dominant and is thought to result in reduced torsinA activity. TorsinA is an AAA protein located in the lumen of the endoplasmic reticulum and nuclear envelope of most cells (with high levels in some brain neurons). It is thought to serve as a chaperone protein and/or a link between these membranes and the cytoskeleton. Other sequence variations in DYT1 can affect penetrance of the ΔGAG mutation and may be associated with more common, late-onset focal forms of dystonia. Animal models of DYT1 dystonia are emerging that will allow preclinical evaluation of drugs that can be used to prevent or treat this non-neurodegenerative neurologic disease.
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