Nihon Shinkei Seishin Yakurigaku Zasshi. 2007 Jun;27(3):141-5.

[Study of the familiar form of vascular dementia (CADASIL)].

[Article in Japanese]

Source

National Institute for Longevity Sciences, National Center for Geriatrics and Gerontology, Gengo 36-3, Morioka-cho, Obu, 474-8522 Japan. takahsi@nils.go.jp

Abstract

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an inherited disease characterized by recurrent subcortical ischemic strokes leading to pseudobulbar palsy, migraine attacks with aura, psychiatric disturbances and vascular dementia. The disease is caused by mutations in the Notch3 receptor. In the present study, we investigated the mechanisms underlying the pathological alterations in CADASIL. We found no difference in the receptor trafficking, processing, or specificity for ligand binding or signal transduction between WT and mutant Notch3 receptors. These results suggest that pathological alterations in CADASIL are not caused by defects in Notch3 processing or signaling.

PMID:: 17633526; [PubMed - indexed for MEDLINE]

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CADASIL - Genetic Alliance

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