You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT ARCHIVES
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 61 No. 12, December 2004 TABLE OF CONTENTS
  Archives
  •  Online Features
  Observation
 This Article
 •Full text
 •PDF
 • Reply to article
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citation map
 •Citing articles on HighWire
 •Citing articles on ISI (4)
 •Contact me when this article is cited
 Related Content
 •Similar articles in this journal
 Topic Collections
 •Movement Disorders
 •Parkinson Disease/ Parkinsonian Disorders
 •Women's Health
 •Women's Health, Other
 •Alert me on articles by topic
 Social Bookmarking
  Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit Add to Technorati
What's this?

Phenotypic and Molecular Analyses of X-linked Dystonia-Parkinsonism ("Lubag") in Women

Virgilio Gerald H. Evidente, MD; Dagmar Nolte, PhD; Stephan Niemann, MD; Joel Advincula, MD; Mezzanie C. Mayo, RN; Filipinas F. Natividad, PhD; Ulrich Müller, MD, PhD

Arch Neurol. 2004;61:1956-1959.

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.


Author Affiliations: Department of Neurology, Mayo Clinic, Scottsdale, Ariz (Dr Evidente); St Luke’s Medical Center, Quezon City, Philippines (Drs Evidente and Natividad and Ms Mayo); Institut für Humangenetik der JLU Giessen, Giessen, Germany (Drs Nolte, Niemann, and Müller); and Western Visayas State University Medical Center, Iloilo City, Philippines (Dr Advincula).



Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

The monogenic primary dystonias
Muller
Brain 2009;0:awp172v1-awp172.
ABSTRACT | FULL TEXT  





HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 2004 American Medical Association. All Rights Reserved.