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Quantitative MRI in CADASIL: correlation with disability and cognitive performance
M Dichgans1, M Filippi, R Brüning
1Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-University, Munich, Germany. mdichgans@brain.nefo.med.uni-muenchen.de
Insights
Brain MRI lesion volume in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) correlates with disability and cognitive function. Age, but not sex or Notch3 genotype, influenced lesion load.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small-vessel disease linked to Notch3 gene mutations.
- Brain MRI reveals abnormalities in both symptomatic and asymptomatic individuals with CADASIL.
Purpose of the Study:
- To investigate the relationship between total brain MRI lesion load and clinical manifestations in CADASIL.
- To assess the impact of demographic factors on quantitative MRI metrics in CADASIL patients.
Main Methods:
- Quantitative MRI analysis was conducted on 64 individuals diagnosed with CADASIL.
- A semi-automated segmentation method utilizing local thresholds was employed to quantify MRI lesions.
Main Results:
- Significant correlations were observed between MRI total lesion volume and disability scores (Rankin Scale) on T1- and proton density (PD)-weighted images.
- Total lesion volume showed a significant inverse correlation with cognitive performance (Mini-Mental State Examination).
- Lesion load correlated with age, but not sex or Notch3 genotype.
Conclusions:
- Brain MRI lesion volume in CADASIL is associated with clinical characteristics, including disability and cognitive impairment.
- Quantitative MRI may serve as a valuable outcome measure in future CADASIL therapeutic trials, warranting longitudinal investigation.
Objective:
To study correlations between total lesion load on brain MRI and clinical features, and to evaluate the influence of demographic variables on quantitative MRI variables in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Background:
CADASIL is a hereditary form of small-vessel disease caused by mutations within the Notch3 gene. MRI abnormalities have been found both in asymptomatic and symptomatic CADASIL individuals.
Methods:
Quantitative measurements on cerebral MRI were performed in 64 CADASIL individuals. MRI lesions were quantified using a semi-automated segmentation technique based on local thresholds.
Results:
MRI total lesion volume correlated significantly with disability (Rankin Scale) on both T1- and proton density (PD)-weighted images. There was a significant inverse correlation between total lesion volume and overall cognitive performance as determined by the Mini-Mental State Examination. Age but not sex was correlated with lesion load both on T1- and PD-weighted images. There was no detectable influence of the Notch3 genotype on quantitative MRI variables.
Conclusions:
This study demonstrates correlations between MRI lesion volume and clinical characteristics in CADASIL. Longitudinal studies are now warranted to investigate whether quantitative MRI could be used as an adjunct outcome measure in future therapeutic trials in CADASIL.
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