LAUSR

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic vascular disorder of the central nervous system and is characterized by recurrent subcortical ischemic stroke and extensive white matter abnormalities. CADASIL is an hereditary autosomal dominant disease, although de novo mutations have been reported, caused by mutations in the NOTCH3 gene located on chromosome 19p13.1. Stroke presents most commonly as classic lacunar syndromes such as a pure motor or sensory deficit, ataxic hemiparesis, or sensory-motor deficit. The core clinical features also include migraine headaches with aura (which affects 20-40% of patients), cognitive impairment (mainly executive dysfunction and reduction of processing speed), and mood disturbances (depression and apathy have been reported in up to 40% of patients) [1]. Magnetic resonance imaging (MRI) shows extensive lacunar infarcts and white matter abnormalities that characteristically involve the anterior temporal pole and external capsule. The involvement of the anterior temporal pole has been reported to have a sensitivity and specificity of approximately 90% for the diagnosis of CADASIL (in the differential diagnosis with sporadic small vessel disease), while the presence of external capsule lesions has a similar sensitivity, but lower specificity (around 50%) [2]. Case Report