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Updated: Jul 17, 2026

Evaluation of the Cognitive Performance of Hypertensive Patients with Silent Cerebrovascular Lesions
Published on: April 23, 2021
Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL
Michael K Liem1, Jeroen van der Grond, Joost Haan
1Department of Radiology, Leiden University Medical Center, C2S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands. m.k.liem@lumc.nl
Lacunar infarcts on MRI are linked to cognitive decline in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). White matter hyperintensities and microbleeds did not show this association.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition caused by NOTCH3 gene mutations.
- It leads to recurrent strokes and cognitive impairment.
- Previous research linked white matter hyperintensities to cognitive issues in CADASIL patients.
Purpose of the Study:
- To investigate the specific contribution of lacunar infarcts and microbleeds to cognitive decline in CADASIL.
- To determine the most significant MRI markers associated with cognitive dysfunction in CADASIL.
Main Methods:
- NOTCH3 gene analysis was conducted on 62 individuals from 15 CADASIL families.
- Neuropsychological tests and brain MRI scans were performed concurrently.
- MRI scans were assessed for white matter hyperintensities, infarct lesion load, and microbleeds using semi-quantitative scoring.
Main Results:
- Forty individuals carried a NOTCH3 mutation, while 22 did not.
- In mutation carriers, cognitive dysfunction severity was independently associated with MRI infarct lesion load (P<0.05).
- White matter hyperintensities and microbleeds showed no significant association with cognitive dysfunction after adjusting for age.
Conclusions:
- Lacunar infarct lesion load is the primary MRI parameter linked to cognitive dysfunction in CADASIL.
- This finding highlights the importance of infarcts in the disease's cognitive impact.
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