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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): A case report with review of literature

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Author(s): Gurumukhani J | Ursekar M | Singhal B

Journal: Neurology India
ISSN 0028-3886

Volume: 52;
Issue: 1;
Start page: 99;
Date: 2004;
Original page

Keywords: Autosomal dominant arteriopathy | Subcortical dementia | Notch 3 gene.

ABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited arterial disease, commonly overlooked or misdiagnosed. We report a case of CADASIL in a 51 years old woman who presented with progressive subcortical dementia, recurrent ischemic events and seizures in the absence of known vascular risk factors of five years' duration. Her mother had a history of similar illness. Magnetic resonance imaging (MRI) of brain revealed subcortical and deep white matter hyperintense lesions within the cerebral white matter on T2-weighted images. DNA mutation of Notch 3 gene confirmed the diagnosis of CADASIL.

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