Multidisciplinary Management of an Unusual Case of Vascular Dementia

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].