{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T01:37:02Z","timestamp":1791250622606,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,22]],"date-time":"2013-10-22T00:00:00Z","timestamp":1382400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Rare autosomal\u2010dominant mutations in <jats:italic>ANO3<\/jats:italic> and <jats:italic>GNAL<\/jats:italic> have been recently shown to represent novel genetic factors underlying primary torsion dystonia (PTD) with predominantly craniocervical involvement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used high\u2010resolution melting to screen all exons of <jats:italic>ANO3<\/jats:italic> and <jats:italic>GNAL<\/jats:italic> for rare sequence variants in a population of 342 German individuals with mainly sporadic PTD and 376 general population controls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 2 novel missense variants in <jats:italic>ANO3<\/jats:italic> (p.Ile833Val and p.Gly973Arg) and 1 novel missense variant in <jats:italic>GNAL<\/jats:italic> (p.Val146Met) in three different nonfamilial cases. Variant carriers presented with adult\u2010onset dystonia involving the neck and\/or face. In controls, 3 rare <jats:italic>ANO3<\/jats:italic> missense variants (p.Tyr235Cys, p.Asn256Ser, and p.Pro893Leu) but no rare nonsynonymous <jats:italic>GNAL<\/jats:italic> variants were present.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>GNAL<\/jats:italic> variants seem to be a rare cause of PTD in our mainly sporadic German sample. Low frequency missense variants in <jats:italic>ANO3<\/jats:italic> occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis. \u00a9 2013 International Parkinson and Movement Disorder Society<\/jats:p><\/jats:sec>","DOI":"10.1002\/mds.25715","type":"journal-article","created":{"date-parts":[[2013,10,22]],"date-time":"2013-10-22T16:37:44Z","timestamp":1382459864000},"page":"143-147","source":"Crossref","is-referenced-by-count":50,"title":["Rare sequence variants in ANO3 and GNAL in a primary torsion dystonia series and controls"],"prefix":"10.1002","volume":"29","author":[{"given":"Michael","family":"Zech","sequence":"first","affiliation":[{"name":"Neurologische Klinik und Poliklinik Klinikum rechts der Isar Technische Universit\u00e4t M\u00fcnchen Munich Germany"},{"name":"Institut f\u00fcr Humangenetik Helmholtz Zentrum M\u00fcnchen Munich 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