Article
Genetic and clinical features of primary torsion dystonia.
Neurobiology of disease - 1 May 2011
Ozelius Laurie J, Bressman Susan B
Abstract excerpt
Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of neuronal degeneration or an acquired cause by history or routine laboratory assessment. Seven different loci have been recognized for PTD but only two of the genes have been identified. In this review we will describe the phenotypes associated with these loci and...
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