Article
Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
Internal medicine (Tokyo, Japan) - 1 Aug 2021
Kano Yuya, Mizuta Ikuko, Ueda Akihiko, Nozaki Hiroaki, Sakurai Keita, Onodera Osamu, Ando Yukio, Yamada Kentaro, Yuasa Hiroyuki, Mizuno Toshiki
Abstract excerpt
A 64-year-old Japanese man with recurrent cerebral ischemic events and cognitive impairment was suspected of having cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) because of a family history and brain magnetic resonance imaging findings of cerebral white matter hyperintensities. The cysteine-sparing variation p.Val237Met was identified in NOTCH3. An intensive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.