Advances in the genetics of primary torsion dystonia

Alberto Albanese, Enza Maria Valente

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

5 Citazioni (Scopus)

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. © 2010 Faculty of 1000 Ltd.
Lingua originaleEnglish
pagine (da-a)1-4
Numero di pagine4
RivistaF1000 Biology Reports
Volume2
DOI
Stato di pubblicazionePubblicato - 2010

Keywords

  • dystonia

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