Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women.
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.
Waters
C H
CH
Department of Neurology, University of Southern California School of Medicine, Los Angeles 90033.
Takahashi
H
H
Wilhelmsen
K C
KC
Shubin
R
R
Snow
B J
BJ
Nygaard
T G
TG
Moskowitz
C B
CB
Fahn
S
S
Calne
D B
DB
D000483:Alleles; D003342:Corpus Striatum / Q000000981:diagnostic imaging / Q000503:physiopathology; D004421:Dystonia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D010679:Philippines; D011110:Polymorphism, Genetic; D013378:Substantia Nigra / Q000000981:diagnostic imaging / Q000503:physiopathology; D014055:Tomography, Emission-Computed; D014960:X Chromosome
D005819:Genetic Markers