Genetic and clinical features of primary torsion dystonia

Abstract

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 discuss the responsible gene. This article is part of a Special Issue entitled “Advances in dystonia”.

Keywords

• Primary torsion dystonia
• Early onset dystonia
• Focal dystonia
• TOR1A
• THAP1
• DYT7