X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome

Ana Westenberger, Raymond L. Rosales, Sascha Heinitz, Karen Grütz, Lilian V. Lee, Roland D. Jamora, Arlene R. Ng, Aloysius Domingo, Katja Lohmann, Uwe Walter, Uta Gölnitz, Arndt Rolfs, Inga Nagel, Gabriele Gillessen-Kaesbach, Reiner Siebert, Dirk Dressler, Christine Klein*

*Corresponding author for this work
7 Citations (Scopus)


Background: Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient. 

Methods: 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.

 Results: 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. 

Conclusions: 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.

Original languageEnglish
JournalMovement Disorders
Issue number5
Pages (from-to)675-678
Number of pages4
Publication statusPublished - 15.04.2013


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