Multidisciplinary Management of an Unusual Case of Vascular Dementia Pages 146-147

Farhaanah Kadri1 and Ejaz Nazir2

1The Redwoods Centre, Shrewsbury, Shropshire, UK; 2South Staffordshire and Shropshire NHS Foundation Trust, University of Chester, UK

DOI: http://dx.doi.org/10.12970/2310-8231.2014.02.03.2

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Abstract: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy, also known as CADASIL is a non-amyloid form of small vessel disease [1]. CADASIL is an autosomal dominant condition mainly affecting the vasculature of the deep matter within the brain, and is caused by a mutation in the NOTCH3 gene on chromosome 19 [2]. The NOTCH3 gene encodes a receptor that is important for the structure and functioning of vascular smooth muscle cells [3]. There are a wide variety of mutations that can take place within the NOTCH3 gene and cysteine is the amino acid involved in the majority of mutations. The addition or deletion of a cysteine molecule affects the Notch3 receptor function in the cells of the vascular smooth muscle, and can lead to apoptosis of the cells [4]. This degeneration along with mural fibrosis can result in stenosis of the arteries [3]. Consequently the blood supply is reduced to the areas supplied by those vessels which in turn causes the symptoms experienced in CADASIL [5].

Keywords: CADASIL, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy, NOTCH3 Gene, familial dementia. Read more →