{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:59:31Z","timestamp":1787752771144,"version":"build-2784847793"},"reference-count":27,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2009,11,2]]},"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>\n                     <jats:italic>TOR1A<\/jats:italic> encodes a chaperone-like AAA-ATPase whose \u0394GAG (\u0394E) mutation is responsible for an early onset, generalised dystonia syndrome. Because of the established role of the <jats:italic>TOR1A<\/jats:italic> gene in heritable generalised dystonia (DYT1), a potential genetic contribution of <jats:italic>TOR1A<\/jats:italic> to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A novel <jats:italic>TOR1A<\/jats:italic> missense mutation (c.613T\u2192A, 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 \u0394E, but not wildtype TOR1A, produced frequent intracellular inclusions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>A novel, rare <jats:italic>TOR1A<\/jats:italic> 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 <jats:italic>TOR1A<\/jats:italic> 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 <jats:italic>TOR1A<\/jats:italic> variants in the expression of late onset, focal dystonia.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2009.072082","type":"journal-article","created":{"date-parts":[[2009,12,2]],"date-time":"2009-12-02T23:07:45Z","timestamp":1259795265000},"page":"646-650","source":"Crossref","is-referenced-by-count":61,"title":["Functional evidence implicating a novel <i>TOR1A<\/i> mutation in idiopathic, late-onset focal dystonia"],"prefix":"10.1136","volume":"47","author":[{"given":"Nicole","family":"Calakos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viren 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