Commissural Fiber Disruption Is Associated With Symptom Onset in Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

ABSTRACT:

Background

Extensive white matter hyperintensities are a hallmark of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small-vessel disease caused by pathogenic NOTCH3 variants. This study aimed to assess microstructural white matter integrity in symptomatic and premanifest CADASIL individuals utilizing peak width of skeletonized mean diffusivity (PSMD), a diffusion tensor imaging-based metric.

Methods

A total of 161 participants were recruited, including 60 patients with symptomatic CADASIL, 67 preclinical NOTCH3 variant carriers, and 34 healthy controls. All participants underwent brain magnetic resonance imaging and PSMD analysis. Cognitive function and disability were assessed using the Mini-Me

SUBMITTER: Hsu SL 

PROVIDER: S-EPMC12553416 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature