title: First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia.
abstract: OBJECTIVE
  To present the first genetically supported case of X linked dystonia parkinsonism (XDP) or 'lubag' reported in an Australian hospital.
  
  
  METHODS
  We performed PCR amplification of microsatellite markers in and around the previously described segregating region for the XDP haplotype.
  
  
  RESULTS
  Linkage was confirmed using markers ZNF261, DXS10017, and DXS10018.
  
  
  CONCLUSIONS
  We present the first case of XDP or 'lubag' reported in an Australian hospital. It highlights the enlarging role of genetic testing in facilitating the diagnosis of dystonia in a clinical environment where a disease like XDP is rare, and where a corroborating family history may be unavailable.
authors.affiliation: St Vincent's Hospital, Melbourne, Victoria, Australia. chrisplummer@ozemail.com.au
authors.forename: C
authors.initials: C
authors.lastname: Plummer
authors.forename: J
authors.initials: J
authors.lastname: Bradfield
authors.forename: A B
authors.initials: AB
authors.lastname: Singleton
authors.forename: D
authors.initials: D
authors.lastname: Hernandez
authors.forename: A A
authors.initials: AA
authors.lastname: Singleton
authors.forename: J
authors.initials: J
authors.lastname: O'sullivan
mesh_terms: D000328:Adult; D001315:Australia; D020821:Dystonic Disorders / Q000235:genetics* / Q000503:physiopathology; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000503:physiopathology; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers