دورية أكاديمية
New genetic insights highlight 'old' ideas on motor dysfunction in dystonia
| العنوان: | New genetic insights highlight 'old' ideas on motor dysfunction in dystonia |
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| المؤلفون: | Goodchild R, Grundmann K, Pisani A |
| المساهمون: | Goodchild, R, Grundmann, K, Pisani, A |
| سنة النشر: | 2013 |
| المجموعة: | IRIS UNIPV (Università degli studi di Pavia) |
| مصطلحات موضوعية: | dopamine, Levodopa, TOR Serine-Threonine Kinase, Human, Corpus Striatum, mTOR, Dystonia, signal transduction, GNAL/Gα(olf), GTP-Binding Protein alpha Subunit, striatum, Molecular Chaperone, Mutation |
| الوصف: | Primary dystonia is a poorly understood but common movement disorder. Recently, several new primary dystonia genes were identified that provide new insight into dystonia pathogenesis. The GNAL dystonia gene is central for striatal responses to dopamine (DA) and is a component of a molecular pathway already implicated in DOPA-responsive dystonia (DRD). Furthermore, this pathway is also dysfunctional and pathogenically linked to mTOR signaling in L-DOPA-induced dyskinesias (LID). These new data suggest that striatal DA responses are central to primary dystonia, even when symptoms do not benefit from DA therapies. Here we integrate these new findings with current understanding of striatal microcircuitry and other dystonia-causing insults to develop new ideas on the pathophysiology of this incapacitating movement disorder. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/24144882; info:eu-repo/semantics/altIdentifier/wos/WOS:000329077500004; volume:36; issue:12; firstpage:717; lastpage:725; numberofpages:9; journal:TRENDS IN NEUROSCIENCES; http://hdl.handle.net/11571/1352977Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84888862211; https://www.sciencedirect.com/science/article/pii/S0166223613001598?via=ihubTest |
| DOI: | 10.1016/j.tins.2013.09.003 |
| الإتاحة: | https://doi.org/10.1016/j.tins.2013.09.003Test http://hdl.handle.net/11571/1352977Test https://www.sciencedirect.com/science/article/pii/S0166223613001598?via=ihubTest |
| رقم الانضمام: | edsbas.835A4797 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.tins.2013.09.003 |
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