[From gene to disease; from Notch3 to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy]

S A Oberstein; E Bakker; M D Ferrari; J Haan

[From gene to disease; from Notch3 to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy]

Ned Tijdschr Geneeskd. 2001 Feb 24;145(8):359-60.

[Article in Dutch]

Authors

S A Oberstein¹, E Bakker, M D Ferrari, J Haan

Affiliation

¹ Afd. Klinische Genetica, Leids Universitair Medisch Centrum, Postbus 9600, 2300 RC Leiden. [email protected]

PMID: 11257815

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy' (CADASIL) is an autosomal dominant inherited arteriopathy leading to brain infarcts and dementia at middle age with extensive cerebral white matter changes on MRI. CADASIL is caused by mutations in the Notch3 gene on chromosome 19.

Publication types

Review

MeSH terms

Cerebral Infarction / etiology
Cerebral Infarction / genetics*
Chromosomes, Human, Pair 19 / genetics
Dementia, Multi-Infarct / complications
Dementia, Multi-Infarct / diagnosis
Dementia, Multi-Infarct / epidemiology
Dementia, Multi-Infarct / genetics*
Genes, Dominant*
Humans
Magnetic Resonance Imaging
Muscle, Smooth, Vascular / metabolism
Netherlands / epidemiology
Point Mutation / genetics*
Proto-Oncogene Proteins / genetics*
Receptor, Notch3
Receptors, Cell Surface*
Receptors, Notch

Substances

NOTCH3 protein, human
Proto-Oncogene Proteins
Receptor, Notch3
Receptors, Cell Surface
Receptors, Notch