The genetics of primary dystonias and related disorders.
Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. Th...
| Main Author: | |
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| Format: | Journal article |
| Language: | English |
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2002
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| _version_ | 1797064719185477632 |
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| author | Németh, A |
| author_facet | Németh, A |
| author_sort | Németh, A |
| collection | OXFORD |
| description | Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. |
| first_indexed | 2024-03-06T21:18:21Z |
| format | Journal article |
| id | oxford-uuid:40928a9d-87c9-421e-89c1-8aaa4f737d2f |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:18:21Z |
| publishDate | 2002 |
| record_format | dspace |
| spelling | oxford-uuid:40928a9d-87c9-421e-89c1-8aaa4f737d2f2022-03-26T14:38:43ZThe genetics of primary dystonias and related disorders.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:40928a9d-87c9-421e-89c1-8aaa4f737d2fEnglishSymplectic Elements at Oxford2002Németh, ADystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias. |
| spellingShingle | Németh, A The genetics of primary dystonias and related disorders. |
| title | The genetics of primary dystonias and related disorders. |
| title_full | The genetics of primary dystonias and related disorders. |
| title_fullStr | The genetics of primary dystonias and related disorders. |
| title_full_unstemmed | The genetics of primary dystonias and related disorders. |
| title_short | The genetics of primary dystonias and related disorders. |
| title_sort | genetics of primary dystonias and related disorders |
| work_keys_str_mv | AT nemetha thegeneticsofprimarydystoniasandrelateddisorders AT nemetha geneticsofprimarydystoniasandrelateddisorders |