J Korean Neurol Assoc.  2019 Feb;37(1):55-58. 10.17340/jkna.2019.1.9.

Clinical Characteristics of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients with R544C Mutation Aged 90 or Older

• Ko K
• Lee J

• KMID: 2449293
• DOI: http://doi.org/10.17340/jkna.2019.1.9

Abstract

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy is an inherited small vessel diseases caused by mutations in the Notch3 gene. In Caucasian patients, the average life expectancy was 65 years for men and 71 years for women. However, this does not seem to be the case in patient with R544C mutation, which is a rare mutation in Caucasian patients. Herein we report two patients with R544C mutation who were older than 90 years who were not previously reported.

Keyword

CADASIL; R544C mutation

MeSH Terms

CADASIL
Female
Humans
Leukoencephalopathies*
Life Expectancy
Male