{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T04:23:45Z","timestamp":1792211025855,"version":"4.4.0"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,1,17]],"date-time":"2014-01-17T00:00:00Z","timestamp":1389916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Genes causing primary dystonia are rare. Recently, pathogenic mutations in the anoctamin 3 gene (<jats:italic>ANO3<\/jats:italic>) have been identified to cause autosomal dominant craniocervical dystonia and have been assigned to the dystonia locus dystonia\u201024 (DYT24). Here, we expand on the phenotypic spectrum of DYT24 and provide demonstrative videos. Moreover, tremor recordings were performed, and back\u2010averaged electroencephalography, sensory evoked potentials, and C\u2010reflex studies were carried out in two individuals who carried two different mutations in <jats:italic>ANO3<\/jats:italic>. Ten patients from three families are described. The age at onset ranged from early childhood to the forties. Cervical dystonia was the most common site of onset followed by laryngeal dystonia. The characteristic feature in all affected individuals was the presence of tremor, which contrasts DYT24 from the typical DYT6 phenotype. Tremor was the sole initial manifestation in some individuals with <jats:italic>ANO3<\/jats:italic> mutations, leading to misdiagnosis as essential tremor. Electrophysiology in two patients with two different mutations showed co\u2010contraction of antagonist muscles, confirming dystonia, and a 6\u2010Hz arm tremor at rest, which increased in amplitude during action. In one of the studied patients, clinically superimposed myoclonus was observed. The duration of the myoclonus was in the range of 250 msec at about 3 Hz, which is more consistent with subcortical myoclonus. In summary, <jats:italic>ANO3<\/jats:italic> causes a varied phenotype of young\u2010onset or adult\u2010onset craniocervical dystonia with tremor and\/or myoclonic jerks. Patients with familial cervical dystonia who also have myoclonus\u2010dystonia as well as patients with prominent tremor and mild dystonia should be tested for <jats:italic>ANO3<\/jats:italic> mutations. \u00a9 2014 The Authors. Movement Disorders published by International Parkinson and Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.25802","type":"journal-article","created":{"date-parts":[[2014,1,17]],"date-time":"2014-01-17T12:32:04Z","timestamp":1389961924000},"page":"928-934","source":"Crossref","is-referenced-by-count":105,"title":["The phenotypic spectrum of DYT24 due to ANO3 mutations"],"prefix":"10.1002","volume":"29","author":[{"given":"Maria","family":"Stamelou","sequence":"first","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"},{"name":"Neurology Clinic Attiko Hospital, University of Athens  Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavin","family":"Charlesworth","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Cordivari","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology National Hospital for Neurology and Neurosurgery London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"},{"name":"Department of Neurology University of Kiel Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg","family":"K\u00e4gi","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"},{"name":"Department of Neurology Kantonsspital St. Gallen St. Gallen Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Una\u2010Marie","family":"Sheerin","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio","family":"Rubio\u2010Agusti","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Batla","sequence":"additional","affiliation":[{"name":"Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL 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