CADASIL. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Content Provider	Semantic Scholar
Author	Chabriat, Hugues Bousser, Marie Germaine
Copyright Year	2003
Abstract	CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) 1 is an inherited small artery disease of mid-adulthood that was identified during the past decade with the use of clinical, magnetic resonance imaging (MRI), pathologic, and genetic tools. 1 The disease is due to mutations of the Notch3 gene on chromosome 19 2 that lead to an accumulation of the ectodomain of this receptor within the vascular wall. CADASIL is responsible for subcortical ischemic events and leads progressively to dementia with pseudobulbar palsy. The disease was first reported in European families. Today, CADASIL has been diagnosed in American, African, and Asiatic pedigrees and reported in all continents. The disease remains largely underdiagnosed.
File Format	PDF HTM / HTML
DOI	10.1016/B0-44-306600-0/50038-9
PubMed reference number	12760177
Journal	Medline
Volume Number	92
Alternate Webpage(s)	http://kumadai-neurology.com/wp-content/uploads/0cb2ba11c509c0f8acf3bb1bd05a9811.pdf
Alternate Webpage(s)	https://doi.org/10.1016/B0-44-306600-0%2F50038-9
Journal	Advances in neurology
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article