Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women

Neurology. 1993 Aug;43(8):1555-8. doi: 10.1212/wnl.43.8.1555.

Abstract

Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. We studied a 54-year-old man with lubag and two of his female first cousins. Genetic typing was carried out using X chromosome markers. Fluorodopa PET was performed on the man and one of the women. The man had moderately severe parkinsonism and dystonia. A 61-year-old female first cousin had mild left-sided dystonia and her 54-year-old sister had mild generalized chorea. Genetic typing data revealed that all three inherited an X chromosome with marker alleles strongly associated with lubag. Cytologic analysis did not reveal evidence of X chromosomal deletion. Fluorodopa PET in both the man and one affected cousin revealed reduced striatal uptake rate constants consistent with nigrostriatal involvement. These observations suggest that lubag may be a codominant disorder and that it is possible for women to be affected.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Corpus Striatum / diagnostic imaging
  • Corpus Striatum / physiopathology
  • Dystonia / complications
  • Dystonia / diagnostic imaging
  • Dystonia / genetics*
  • Dystonia / physiopathology
  • Female
  • Gene Expression*
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Male
  • Middle Aged
  • Parkinson Disease / complications
  • Parkinson Disease / diagnostic imaging
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology
  • Pedigree
  • Phenotype
  • Philippines
  • Polymorphism, Genetic
  • Substantia Nigra / diagnostic imaging
  • Substantia Nigra / physiopathology
  • Tomography, Emission-Computed
  • X Chromosome*

Substances

  • Genetic Markers