title: Inherited isolated dystonia: clinical genetics and gene function.
abstract: Isolated inherited dystonia-formerly referred to as primary dystonia-is characterized by abnormal motor functioning of a grossly normal appearing brain. The disease manifests as abnormal involuntary twisting movements. The absence of overt neuropathological lesions, while intriguing, has made it particularly difficult to unravel the pathogenesis of isolated inherited dystonia. The explosion of genetic techology enabling the identification of the causative gene mutations is transforming our understanding of dystonia pathogenesis, as the molecular, cellular and circuit level consequences of these mutations are identified in experimental systems. Here, I review the clinical genetics and cell biology of three forms of inherited dystonia for which the causative mutation is known: DYT1 (TOR1A), DYT6 (THAP1), DYT25 (GNAL).
authors.affiliation: Department of Neurology, Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI, 48109-220, USA, dauer@med.umich.edu.
authors.forename: William
authors.initials: W
authors.lastname: Dauer
mesh_terms: D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D001921:Brain / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics; D020821:Dystonic Disorders / Q000235:genetics*; D044385:GTP-Binding Protein alpha Subunits / Q000235:genetics; D006801:Humans; D018832:Molecular Chaperones / Q000235:genetics; D009154:Mutation; D009474:Neurons / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D044385:GTP-Binding Protein alpha Subunits; D018832:Molecular Chaperones; D009687:Nuclear Proteins; C474080:THAP1 protein, human; C108175:TOR1A protein, human; C084618:olfactory G protein subunit alpha olf