Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Associated With a Novel In-Frame Mutation in the NOTCH3 Gene in a Japanese Patient

Here, we report a case involving a 67-year-old Japanese woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel in-frame complex rearrangement in the NOTCH3 gene. The patient had gradually developed cognitive impairment since the occurrence of an ischemic stroke at the age of 53 years. Her mother had a history of stroke and dementia. Fluid-attenuated inversion recovery magnetic resonance imaging of the brain showed hyperintense lesions in the bilateral temporal poles, external capsules, and periventricular white matter accompanied by multiple cerebral microbleeds on T2*-weighted gradient-echo imaging.

Source: Journal of Stroke and Cerebrovascular Diseases - November 3, 2019 Category: Neurology Authors: Yuho Takeshi, Satoshi Suda, Takashi Shimoyama, Junya Aoki, Kentaro Suzuki, Seiji Okubo, Ikuko Mizuta, Toshiki Mizuno, Kazumi Kimura Tags: Case Report Source Type: research