NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease

NOTCH3 is the causative gene for autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) which is associated with both stroke and dementia. When CADASIL presents primarily as dementia it can be difficult to distinguish from Alzheimer's disease (AD) at both the clinical and neuropathological levels.

Source: Journal of the Neurological Sciences - August 7, 2023 Category: Neurology Authors: Olena Korvatska, Stephanie A. Bucks, Rebecca A. Yoda, Amber Nolan, Michael O. Dorschner, Debby Tsuang, Suman Jayadev, Wendy H. Raskind, Thomas D. Bird Source Type: research