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Phenotypic and Molecular Analyses of X-linked Dystonia-Parkinsonism ('Lubag') in Women
- Source :
- Archives of Neurology. 61
- Publication Year :
- 2004
- Publisher :
- American Medical Association (AMA), 2004.
-
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.
- Subjects :
- Adult
Male
medicine.medical_specialty
Pediatrics
Neurological disorder
X-Linked Dystonia Parkinsonism
Parkinsonian Disorders
Arts and Humanities (miscellaneous)
medicine
Humans
Aged
Dystonia
Parkinsonism
Genetic Diseases, X-Linked
Chorea
Middle Aged
Focal dystonia
medicine.disease
nervous system diseases
Surgery
Phenotype
Haplotypes
Case-Control Studies
Female
Neurology (clinical)
medicine.symptom
Age of onset
Psychology
Myoclonus
Subjects
Details
- ISSN :
- 00039942
- Volume :
- 61
- Database :
- OpenAIRE
- Journal :
- Archives of Neurology
- Accession number :
- edsair.doi.dedup.....ffda5bcdb4846832f847f8c8bd98f2d0