Neuroscience and Symptoms Related to the CADASIL Disease

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) disease belongs to the group of rare diseases. It is well established that Notch3 protein is primarily responsible for the development of the CADASIL syndrome. Herein, we attempt to shed light to the actual molecular mechanism underlying CADASIL syndrome via insights that we have from preliminary in silico and proteomics studies on the Notch3 protein, which is involved in many cancers and in particular lung and ovarian cancer. In this disease we always see accumulation of Granular Osmiophilic Material (GOM), which has been a hallmark for the final diagnosis based on electron microcopy (EM). Consequently, we present the regions of the brain that get affected by the disease and their functions. Finally, the symptoms of CADASIL are examined with reference to the neurological analysis that has preceded.