title: DYT6 Dystonia: A Neuropathological Study.
abstract: BACKGROUND
  Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). However, no neuropathological studies of genetically proven DYT6 cases have been previously reported.
  
  
  OBJECTIVE
  We report the first detailed neuropathological investigation carried out on two DYT6 brains.
  
  
  METHODS
  Genetic screening for THAP1 gene mutations using standard Sanger polymerase chain reaction sequencing identified 2 cases, 1 with a known pathogenic mutation and the other with a novel mutation. A detailed neuropathological assessment of the cases was performed.
  
  
  RESULTS
  Both DYT6 cases showed no significant neurodegeneration and no specific disease-related pathology.
  
  
  CONCLUSIONS
  No neuropathological features that could be defined as hallmark features of DYT6 dystonia were identified. Our study supports the notion that in isolated dystonia, there is no significant neurodegeneration or morphological lesions that can be identified using routine methods.
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Reema
authors.initials: R
authors.lastname: Paudel
authors.forename: Abi
authors.initials: A
authors.lastname: Li
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Janice
authors.initials: J
authors.lastname: Holton
mesh_terms: D000368:Aged; D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D020821:Dystonic Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D044465:White People / Q000235:genetics
chemical_list: D051017:Apoptosis Regulatory Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C474080:THAP1 protein, human