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We describe an unusual clinical presentation of this condition in members of a Chilean family with an established <jats:italic>NOTCH3<\/jats:italic> mutation. We report early clinical, neuropsychological, transcranial ultrasound, magnetic resonance imaging (MRI), cerebral blood flow, and skin biopsy findings on these patients. Of the patients, 2 presented with facial dystonia, 1 of whom had abnormal single photon emission computed tomography and transcranial ultrasound studies after normal brain MRI scans. Our report emphasizes that CADASIL must be considered in the study of patients with secondary dystonia. \u00a9 2006 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20879","type":"journal-article","created":{"date-parts":[[2006,3,14]],"date-time":"2006-03-14T12:47:00Z","timestamp":1142340420000},"page":"1008-1012","source":"Crossref","is-referenced-by-count":12,"title":["CADASIL presenting with a movement disorder: A clinical study of a Chilean 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