Genetics of dystonia.
Primary torsion dystonia (PTD) has a broad clinical spectrum, with earlier onset of symptoms associated with more generalized muscle involvement. The causes for most dystonia are unknown although several monogenic subtypes have been identified. One important genetic cause of PTD is DYT1; a three base pair deletion in this gene is a major cause for early-onset dystonia. Its identification has allowed the development of cellular and animal models; it has also permitted studies that identify both "manifesting" and "non-manifesting" DYT1 mutation carriers. These studies have expanded our understanding of clinical expression to include psychiatric symptoms and also have enabled imaging studies of endophenotypes. These advances provide a widened platform for future research.
Bressman
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Beth Israel Medical Center, Department of Neurology, Albert Einstein College of Medicine, New York, NY 10003, USA. sbressma@bethisraelny.org
D017668:Age of Onset; D000818:Animals; D004421:Dystonia / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics; D005006:Ethnicity; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics
D018832:Molecular Chaperones; C108175:TOR1A protein, human