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• W2077457890 abstract "<h3>Background</h3> <i>TOR1A</i> encodes a chaperone-like AAA-ATPase whose ΔGAG (ΔE) mutation is responsible for an early onset, generalised dystonia syndrome. Because of the established role of the <i>TOR1A</i> gene in heritable generalised dystonia (DYT1), a potential genetic contribution of <i>TOR1A</i> to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested. <h3>Results</h3> A novel <i>TOR1A</i> missense mutation (c.613T→A, p.F205I) in a patient with late onset, focal dystonia is reported. The mutation occurs in a highly evolutionarily conserved region encoding the AAA-ATPase domain. Expression assays revealed that expression of F205I or ΔE, but not wildtype TOR1A, produced frequent intracellular inclusions. <h3>Conclusions</h3> A novel, rare <i>TOR1A</i> variant has been identified in an individual with late onset, focal dystonia and evidence provided that the mutation impairs TOR1A function. Together these findings raise the possibility that this novel <i>TOR1A</i> variant may contribute to the expression of dystonia. In light of these findings, a more comprehensive genetic effort is warranted to identify the role of this and other rare <i>TOR1A</i> variants in the expression of late onset, focal dystonia." @default.
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• W2077457890 date "2009-12-02" @default.
• W2077457890 modified "2023-10-17" @default.
• W2077457890 title "Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia" @default.
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• W2077457890 doi "https://doi.org/10.1136/jmg.2009.072082" @default.
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