Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women.
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.
Evidente
Virgilio Gerald H
VG
Department of Neurology, Mayo Clinic, 13400 E Shea Boulevard, Scottsdale, AZ 85259, USA. evidente.virgilio@mayo.edu
Nolte
Dagmar
D
Niemann
Stephan
S
Advincula
Joel
J
Mayo
Mezzanie C
MC
Natividad
Filipinas F
FF
Müller
Ulrich
U
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