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EnglishKnowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow pace compared with other movement disorders. For many years, only one causative gene was known, DYT1/TOR1A, yet the recent identification of a second PTD causative gene (DYT6/THAP1), the detection of subclinical alterations caused by mutations in PTD genes in some healthy non-penetrant individuals, and functional studies on TOR1A and THAP1 protein products have significantly improved mutation detection, genotype-phenotype correlates, and our understanding of the cellular mechanisms underlying the development of dystonia.
| Autori: | |
| Titolo: | Advances in the genetics of primary torsion dystonia |
| Data di pubblicazione: | 2010 |
| Abstract: | Knowledge about the genetics of primary torsion dystonia (PTD) has been progressing at a very slow pace compared with other movement disorders. For many years, only one causative gene was known, DYT1/TOR1A, yet the recent identification of a second PTD causative gene (DYT6/THAP1), the detection of subclinical alterations caused by mutations in PTD genes in some healthy non-penetrant individuals, and functional studies on TOR1A and THAP1 protein products have significantly improved mutation detection, genotype-phenotype correlates, and our understanding of the cellular mechanisms underlying the development of dystonia. |
| Lingua: | Inglese |
| Rivista: | |
| Citazione: | Valente, E. M., Albanese, A., Advances in the genetics of primary torsion dystonia, <<F1000 BIOLOGY REPORTS>>, 2010; 2 (Giugno): 41/1-41/4 [http://hdl.handle.net/10807/26512] |
| Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |
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