Funding agencies: This study was supported by Jake's Ride for Dystonia research grant through the Bachmann-Strauss Dystonia & Parkinson Foundation (to Ana Westenberger), a research grant from the Fritz Thyssen Foundation (to Ana Westenberger), a Habilitation Fellowship for Women Researchers from the University of Lübeck, Germany (to Ana Westenberger), a “Medical Excellence” Doctoral Scholarship from the University of Lübeck, Germany (to Sascha Heinitz), intramural funding from the Medical Faculty of the Christian-Albrechts-University Kiel (to Inga Nagel and Reiner Siebert), and a grant from the Hermann and Lilly Schilling Foundation (to Christine Klein).
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome
Article first published online: 6 FEB 2013
Copyright © 2013 Movement Disorder Society
Volume 28, Issue 5, pages 675–678, May 2013
How to Cite
Westenberger, A., Rosales, R. L., Heinitz, S., Freimann, K., Lee, L. V., Jamora, R. D., Ng, A. R., Domingo, A., Lohmann, K., Walter, U., Gölnitz, U., Rolfs, A., Nagel, I., Gillessen-Kaesbach, G., Siebert, R., Dressler, D. and Klein, C. (2013), X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. Mov. Disord., 28: 675–678. doi: 10.1002/mds.25369
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 15 MAY 2013
- Article first published online: 6 FEB 2013
- Manuscript Accepted: 21 DEC 2012
- Manuscript Revised: 14 DEC 2012
- Manuscript Received: 25 JUL 2012
- X-linked dystonia-parkinsonism;
- genotype-phenotype correlation;
- gene and chromosome copy-number analysis;
- Turner syndrome
Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.
We confirmed the presence of an X-linked dystonia-parkinsonism–specific change in our patient by sequencing. In addition, we employed quantitative real-time PCR and array comparative genomic hybridization to determine the patient's X-chromosome copy number.
The patient's sequence electropherogram suggested a higher amount of the mutated allele compared with the wild-type allele. Subsequently, extensive gene dosage analyses revealed a copy number of the X chromosomes between 1 and 2, indicating loss of 1 X chromosome in a subset of cells. Phenotypic reevaluation of the patient showed several clinical features of Turner syndrome.
Our female X-linked dystonia-parkinsonism patient suffered from an undiagnosed X-chromosome monosomy in a subset of cells (45,X/46,XX), suggesting an atypical Turner syndrome and contributing the first molecular explanation for the manifestation of an X-linked dystonia-parkinsonism phenotype in women. © 2013 Movement Disorder Society