Article
The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.
Journal of the neurological sciences - 15 Jul 2006
Uyguner Z O, Siva A, Kayserili H, Saip S, Altintaş A, Apak M Y, Albayram S, Işik N, Akman-Demir G, Taşyürekli M, Oz B, Wollnik B
Abstract excerpt
Mutations in Notch3 gene are responsible for the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). It is a late onset neurological disorder recognized by recurrent strokes and dementia. We describe here the clinical and molecular findings of three unrelated Turkish families with CADASIL syndrome. Two of the families were identified to have the same mutation,...
Topics
Join the communities discussing this publication.