title: Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women.
abstract: BACKGROUND
  X-linked dystonia-parkinsonism (XDP) or "lubag" is an X-linked recessive disorder that afflicts Filipino men, and rarely, women. Genetic confirmation is performed through haplotyping or detection of disease-specific changes in the DYT3 gene.
  
  
  OBJECTIVE
  To describe the phenotypes and molecular data of 8 symptomatic female patients with XDP from 5 kindreds.
  
  
  METHODS
  Case series.
  
  
  RESULTS
  The average age of onset of symptoms was 52 years (range, 26-75 years). Six of 8 patients had parkinsonism, whereas only 1 had dystonia. The initial symptom was focal tremor or parkinsonism in 4, chorea in 3, and focal dystonia (cervical) in 1. Seven of 8 patients had slow or no progression of their symptoms and required no treatment. The patient with disabling parkinsonism was responsive to carbidopa/levodopa. Seven were heterozygous for the XDP haplotype, whereas 1 was homozygous.
  
  
  CONCLUSIONS
  The phenotypes of female patients with XDP may include parkinsonism, dystonia, myoclonus, tremor, and chorea. The dystonia, if present, is mild and usually nonprogressive. Similar to men with XDP, parkinsonism is a frequent symptom in women. In contrast to men, affected women have a more benign phenotype, older age of onset, and milder course. Extreme X-inactivation mosaic may be a cause of symptoms in women with XDP, but a homozygously affected woman has also been observed.
authors.affiliation: Department of Neurology, Mayo Clinic, 13400 E Shea Boulevard, Scottsdale, AZ 85259, USA. evidente.virgilio@mayo.edu
authors.forename: Virgilio Gerald H
authors.initials: VG
authors.lastname: Evidente
authors.forename: Dagmar
authors.initials: D
authors.lastname: Nolte
authors.forename: Stephan
authors.initials: S
authors.lastname: Niemann
authors.forename: Joel
authors.initials: J
authors.lastname: Advincula
authors.forename: Mezzanie C
authors.initials: MC
authors.lastname: Mayo
authors.forename: Filipinas F
authors.initials: FF
authors.lastname: Natividad
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004421:Dystonia / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics*; D010641:Phenotype