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.

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]

Advances in the genetics of primary torsion dystonia

Albanese, Alberto
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.
Inglese
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]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/26512
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