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X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome
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| Zeitschriftentitel: | Movement Disorders |
|---|---|
| Personen und Körperschaften: | , , , , , , , , , , , , , , , , |
| In: | Movement Disorders, 28, 2013, 5, S. 675-678 |
| Medientyp: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Westenberger, Ana Rosales, Raymond L. Heinitz, Sascha Freimann, Karen Lee, Lilian V. Jamora, Roland D. Ng, Arlene R. Domingo, Aloysius Lohmann, Katja Walter, Uwe Gölnitz, Uta Rolfs, Arndt Nagel, Inga Gillessen‐Kaesbach, Gabriele Siebert, Reiner Dressler, Dirk Klein, Christine Westenberger, Ana Rosales, Raymond L. Heinitz, Sascha Freimann, Karen Lee, Lilian V. Jamora, Roland D. Ng, Arlene R. Domingo, Aloysius Lohmann, Katja Walter, Uwe Gölnitz, Uta Rolfs, Arndt Nagel, Inga Gillessen‐Kaesbach, Gabriele Siebert, Reiner Dressler, Dirk Klein, Christine |
|---|---|
| author |
Westenberger, Ana Rosales, Raymond L. Heinitz, Sascha Freimann, Karen Lee, Lilian V. Jamora, Roland D. Ng, Arlene R. Domingo, Aloysius Lohmann, Katja Walter, Uwe Gölnitz, Uta Rolfs, Arndt Nagel, Inga Gillessen‐Kaesbach, Gabriele Siebert, Reiner Dressler, Dirk Klein, Christine |
| spellingShingle |
Westenberger, Ana Rosales, Raymond L. Heinitz, Sascha Freimann, Karen Lee, Lilian V. Jamora, Roland D. Ng, Arlene R. Domingo, Aloysius Lohmann, Katja Walter, Uwe Gölnitz, Uta Rolfs, Arndt Nagel, Inga Gillessen‐Kaesbach, Gabriele Siebert, Reiner Dressler, Dirk Klein, Christine Movement Disorders X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome Neurology (clinical) Neurology |
| author_sort |
westenberger, ana |
| spelling |
Westenberger, Ana Rosales, Raymond L. Heinitz, Sascha Freimann, Karen Lee, Lilian V. Jamora, Roland D. Ng, Arlene R. Domingo, Aloysius Lohmann, Katja Walter, Uwe Gölnitz, Uta Rolfs, Arndt Nagel, Inga Gillessen‐Kaesbach, Gabriele Siebert, Reiner Dressler, Dirk Klein, Christine 0885-3185 1531-8257 Wiley Neurology (clinical) Neurology http://dx.doi.org/10.1002/mds.25369 <jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Recessive X‐linked dystonia‐parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>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 <jats:italic>Movement</jats:italic> Disorder Society</jats:p></jats:sec> X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome Movement Disorders |
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| title |
X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_unstemmed |
X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_full |
X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_fullStr |
X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_full_unstemmed |
X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_short |
X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_sort |
x‐linked dystonia‐parkinsonism manifesting in a female patient due to atypical turner syndrome |
| topic |
Neurology (clinical) Neurology |
| url |
http://dx.doi.org/10.1002/mds.25369 |
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2013 |
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675-678 |
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<jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Recessive X‐linked dystonia‐parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>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 <jats:italic>Movement</jats:italic> Disorder Society</jats:p></jats:sec> |
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| author | Westenberger, Ana, Rosales, Raymond L., Heinitz, Sascha, Freimann, Karen, Lee, Lilian V., Jamora, Roland D., Ng, Arlene R., Domingo, Aloysius, Lohmann, Katja, Walter, Uwe, Gölnitz, Uta, Rolfs, Arndt, Nagel, Inga, Gillessen‐Kaesbach, Gabriele, Siebert, Reiner, Dressler, Dirk, Klein, Christine |
| author_facet | Westenberger, Ana, Rosales, Raymond L., Heinitz, Sascha, Freimann, Karen, Lee, Lilian V., Jamora, Roland D., Ng, Arlene R., Domingo, Aloysius, Lohmann, Katja, Walter, Uwe, Gölnitz, Uta, Rolfs, Arndt, Nagel, Inga, Gillessen‐Kaesbach, Gabriele, Siebert, Reiner, Dressler, Dirk, Klein, Christine, Westenberger, Ana, Rosales, Raymond L., Heinitz, Sascha, Freimann, Karen, Lee, Lilian V., Jamora, Roland D., Ng, Arlene R., Domingo, Aloysius, Lohmann, Katja, Walter, Uwe, Gölnitz, Uta, Rolfs, Arndt, Nagel, Inga, Gillessen‐Kaesbach, Gabriele, Siebert, Reiner, Dressler, Dirk, Klein, Christine |
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| description | <jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Recessive X‐linked dystonia‐parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>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 <jats:italic>Movement</jats:italic> Disorder Society</jats:p></jats:sec> |
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| spelling | Westenberger, Ana Rosales, Raymond L. Heinitz, Sascha Freimann, Karen Lee, Lilian V. Jamora, Roland D. Ng, Arlene R. Domingo, Aloysius Lohmann, Katja Walter, Uwe Gölnitz, Uta Rolfs, Arndt Nagel, Inga Gillessen‐Kaesbach, Gabriele Siebert, Reiner Dressler, Dirk Klein, Christine 0885-3185 1531-8257 Wiley Neurology (clinical) Neurology http://dx.doi.org/10.1002/mds.25369 <jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Recessive X‐linked dystonia‐parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>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 <jats:italic>Movement</jats:italic> Disorder Society</jats:p></jats:sec> X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome Movement Disorders |
| spellingShingle | Westenberger, Ana, Rosales, Raymond L., Heinitz, Sascha, Freimann, Karen, Lee, Lilian V., Jamora, Roland D., Ng, Arlene R., Domingo, Aloysius, Lohmann, Katja, Walter, Uwe, Gölnitz, Uta, Rolfs, Arndt, Nagel, Inga, Gillessen‐Kaesbach, Gabriele, Siebert, Reiner, Dressler, Dirk, Klein, Christine, Movement Disorders, X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome, Neurology (clinical), Neurology |
| title | X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_full | X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_fullStr | X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_full_unstemmed | X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_short | X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_sort | x‐linked dystonia‐parkinsonism manifesting in a female patient due to atypical turner syndrome |
| title_unstemmed | X‐linked Dystonia‐Parkinsonism manifesting in a female patient due to atypical turner syndrome |
| topic | Neurology (clinical), Neurology |
| url | http://dx.doi.org/10.1002/mds.25369 |