Late-onset dementia with leukoencephalopathy and a <i>COL4A2</i> gene variant, causal link or fortuitous association: a case report.

ABSTRACT:

Background

Cerebral small vessel disease can manifest as vascular dementia, typically associated with vascular risk factors or cerebral amyloid angiopathy, and more rarely associated with hereditary conditions. We present a case of late-onset dementia, associated with a likely pathogenic COL4A2 variant.

Case presentation

A 74-year-old woman presented with cognitive decline and behavioral changes, without personal history of cerebral infarcts or intracerebral hemorrhage. Brain MRI revealed an extensive leukoencephalopathy affecting periventricular and deep white matter, including subcortical white matter in the anterior temporal lobes and the orbitofrontal regions. Genetic analysis identified a heterozygous glycine substitution within the triple-helical domain of CO

SUBMITTER: Garnier-Crussard A 

PROVIDER: S-EPMC12651356 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature