A-037 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctions and Leukoencephalopathy: A Neuropsychological Case Review

Abstract

Abstract Objectives Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarctions and Leukoencephalopathy (CADASIL) is a rare genetic disorder. It is caused by a mutation in the NOTCH3 gene on chromosome 19 which damages vascular smooth muscle cells resulting in impaired cerebral blood flow and a progressive vascular dementia. Onset typically occurs by the mid-30’s but varies widely. This case study describes a unique case of rapid disease progression. Methods The patient was a 58-year-old right-handed male. Initial symptom onset occurred at the age of 53, with blurred vision, severe headache, and difficulty speaking. Brain imaging (CT, MRI) showed significant white matter degeneration and cortical volume loss. Multiple sclerosis was hypothesized. Following the development of seizures and a right hemisphere stroke, the patient underwent genetic testing and was diagnosed with CADASIL. Initial neuropsychological evaluation revealed deficits in perceptual reasoning, working memory, processing speed, memory, and executive functioning. Serial evaluation included intelligence testing, academic achievement, the Meyers Neuropsychological Battery, and psychological functioning. Results Intellectual functioning and the overall neuropsychological test battery mean were one and a half to two standard deviations below his estimated premorbid functioning. Executive functioning declined from prior evaluation. Psychologically, the patient reported mild anger, irritability, and interpersonal difficulties. His wife endorsed significant increases in apathy and disinhibition and decline in executive functioning. The patient passed away approximately six months post-evaluation. Conclusion Findings were consistent with moderate-to-severe diffuse and lateralized deficits (RCH > LCH) resulting from subcortical/higher cortical vascular dementia due to CADASIL and its medical sequelae, with quite rapid symptom onset and decline.