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Program

Internal Medicine

Training Level

Resident PGY 1

Institution

Henry Ford Hospital

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, or CADASIL, is a genetic disease that eventually results in early-onset strokes and dementia. It is one of the most common hereditary causes of strokes and vascular dementia. The mutation involves the NOTCH3 gene, a gene implicated in small vessel proliferation and remodeling. Interestingly, the majority of the small vessel pathology occurs in the vasculature of the subcortical regions of the brain. This is a case of a female with a typical presentation of the disease, presenting with late stage subcortical dementia. Collaborative history from her children revealed a characteristic progression of the disease. The study of her case will help illustrate the distinctive manifestations of the condition often associated with the condition. Information regarding the natural history, diagnosis, and management will also be discussed. CADASIL is assumed to be massively under-diagnosed, and is believed to underlie a much larger proportion of stroke and dementia cases than previously thought.

Publication Date

5-2019

CADASIL subcortical dementia – A case report

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