Microbleed clustering in thalamus sign in CADASIL patients with NOTCH3 R75P mutation.

ABSTRACT:

Background and objective

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microvascular disease characterized by the development of vascular dementia and lacunar infarctions. This study aimed to identify the genetic and clinical features of CADASIL in Japan.

Methods

We conducted genetic analysis on a case series of patients clinically diagnosed with CADASIL. Clinical and imaging analyses were performed on 32 patients with pathogenic mutations in the NOTCH3 gene. To assess the presence of cerebral microbleeds (CMBs), we utilized several established rating scales including the Fazekas scale, Scheltens rating scale, and Microbleed Anatomical Rating Scale, based on brain MRI images.

Results

SUBMITTER: Takei J 

PROVIDER: S-EPMC10480842 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature