Molecular pathways in dystonia
The hereditary dystonias comprise a set of diseases defined by a common constellation of motor deficits. These disorders are most likely associated with different molecular etiologies, many of which have yet to be elucidated. Here we discuss recent advances in three forms of hereditary dystonia, DYT...
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| Format: | Article |
| Language: | English |
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Elsevier
2011-05-01
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| Series: | Neurobiology of Disease |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996110003906 |
| _version_ | 1818337338475937792 |
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| author | D. Cristopher Bragg Ioanna A. Armata Flavia C. Nery Xandra O. Breakefield Nutan Sharma |
| author_facet | D. Cristopher Bragg Ioanna A. Armata Flavia C. Nery Xandra O. Breakefield Nutan Sharma |
| author_sort | D. Cristopher Bragg |
| collection | DOAJ |
| description | The hereditary dystonias comprise a set of diseases defined by a common constellation of motor deficits. These disorders are most likely associated with different molecular etiologies, many of which have yet to be elucidated. Here we discuss recent advances in three forms of hereditary dystonia, DYT1, DYT6 and DYT16, which share a similar clinical picture: onset in childhood or adolescence, progressive spread of symptoms with generalized involvement of body regions and a steady state affliction without treatment. Unlike DYT1, the genes responsible for DYT6 and DYT16 have only recently been identified, with relatively little information about the function of the encoded proteins. Nevertheless, recent data suggest that these proteins may fit together within interacting pathways involved in dopaminergic signaling, transcriptional regulation, and cellular stress responses. This review focuses on these molecular pathways, highlighting potential common themes among these dystonias which may serve as areas for future research. This article is part of a Special Issue entitled “Advances in dystonia”. |
| first_indexed | 2024-12-13T14:53:38Z |
| format | Article |
| id | doaj.art-37a16d098d6f401b875b0e50f00059ed |
| institution | Directory Open Access Journal |
| issn | 1095-953X |
| language | English |
| last_indexed | 2024-12-13T14:53:38Z |
| publishDate | 2011-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Neurobiology of Disease |
| spelling | doaj.art-37a16d098d6f401b875b0e50f00059ed2022-12-21T23:41:17ZengElsevierNeurobiology of Disease1095-953X2011-05-01422136147Molecular pathways in dystoniaD. Cristopher Bragg0Ioanna A. Armata1Flavia C. Nery2Xandra O. Breakefield3Nutan Sharma4Department of Neurology, Massachusetts General Hospital, Charlestown, MA USA; Program in Neuroscience, Harvard Medical School, Boston, MA USA; Corresponding author. Department of Neurology, Massachusetts General Hospital, Building 149, 13th Street, Charlestown, MA 02129, USA. Fax: +1 617 724 1537.Department of Neurology, Massachusetts General Hospital, Charlestown, MA USA; Program in Neuroscience, Harvard Medical School, Boston, MA USADepartment of Neurology, Massachusetts General Hospital, Charlestown, MA USA; Program in Neuroscience, Harvard Medical School, Boston, MA USADepartment of Neurology, Massachusetts General Hospital, Charlestown, MA USA; Program in Neuroscience, Harvard Medical School, Boston, MA USA; Department of Radiology, Massachusetts General Hospital, Charlestown, MA USADepartment of Neurology, Massachusetts General Hospital, Charlestown, MA USAThe hereditary dystonias comprise a set of diseases defined by a common constellation of motor deficits. These disorders are most likely associated with different molecular etiologies, many of which have yet to be elucidated. Here we discuss recent advances in three forms of hereditary dystonia, DYT1, DYT6 and DYT16, which share a similar clinical picture: onset in childhood or adolescence, progressive spread of symptoms with generalized involvement of body regions and a steady state affliction without treatment. Unlike DYT1, the genes responsible for DYT6 and DYT16 have only recently been identified, with relatively little information about the function of the encoded proteins. Nevertheless, recent data suggest that these proteins may fit together within interacting pathways involved in dopaminergic signaling, transcriptional regulation, and cellular stress responses. This review focuses on these molecular pathways, highlighting potential common themes among these dystonias which may serve as areas for future research. This article is part of a Special Issue entitled “Advances in dystonia”.http://www.sciencedirect.com/science/article/pii/S0969996110003906DystoniaTorsinATHAP1PACTPRKRADopamine |
| spellingShingle | D. Cristopher Bragg Ioanna A. Armata Flavia C. Nery Xandra O. Breakefield Nutan Sharma Molecular pathways in dystonia Neurobiology of Disease Dystonia TorsinA THAP1 PACT PRKRA Dopamine |
| title | Molecular pathways in dystonia |
| title_full | Molecular pathways in dystonia |
| title_fullStr | Molecular pathways in dystonia |
| title_full_unstemmed | Molecular pathways in dystonia |
| title_short | Molecular pathways in dystonia |
| title_sort | molecular pathways in dystonia |
| topic | Dystonia TorsinA THAP1 PACT PRKRA Dopamine |
| url | http://www.sciencedirect.com/science/article/pii/S0969996110003906 |
| work_keys_str_mv | AT dcristopherbragg molecularpathwaysindystonia AT ioannaaarmata molecularpathwaysindystonia AT flaviacnery molecularpathwaysindystonia AT xandraobreakefield molecularpathwaysindystonia AT nutansharma molecularpathwaysindystonia |