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From the Istituto Scienze Neurologiche (Drs. Malandrini, Ciacci, Villanova, Palmeri, and Guazzi), Università di Siena, Siena; Laboratorio di Genetica Molecolare (Drs. Carrera, Vismara, and Ferrari), IRCCS Ospedale S. Raffaele, Milano; Istituto di Patologia Medica (Dr. Gonnelli), Università di Siena, Siena; and Istituto di Radiologia "A. Cesalpino" (Dr. Signorini), Terontola, Italy; and Department of Psychiatry (Dr. Brancolini), Columbia University, New York, NY.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described inherited disorder. The pathologic gene maps on chromosome 19. The clinical spectrum of the disease consists of recurrent strokes, migraine, transient ischemic attacks, mood changes, and dementia. We report a genetically assessed CADASIL family with atypical clinical presentations of epileptic seizures. In two asymptomatic family members there were early brain abnormalities on MRI. Our report expands the clinical spectrum of CADASIL and suggests that it is possibly an undiagnosed disorder.
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