Article
CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor.
European journal of neurology - 1 Jan 2002
Utku U, Celik Y, Uyguner O, Yüksel-Apak M, Wollnik B
Abstract excerpt
Mutations in the Notch3 gene are the cause of the autosomal dominant disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The CADASIL is an adult-onset neurologic disorder (average age of onset is 45 years) characterized by recurrent strokes and dementia. Clinical features combined with cerebral magnetic resonance imaging (MRI), showing a diffuse...
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