Cited by 120Cerebrovascular and genetic disordersNeurological Disease Mechanisms and TreatmentsGenetic Neurodegenerative Diseases

The DOI matches its Crossref record, with a small difference in title or year; 31 of the 31 references it cites were found in a registry or an index.

Quantitative MRI in CADASIL: Correlation with disability and cognitive performance

Dichgans, M., Filippi, M., Brüning, R., Iannucci, G., Berchtenbreiter, C., Minicucci, L., Uttner, I., Crispin, A., Ludwig, H., Gasser, T., Yousry, T.A.·1999·Neurology

DOI 10.1212/wnl.52.7.1361

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Abstract

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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Authors: Dichgans, M., Filippi, M., Brüning, R., Iannucci, G., Berchtenbreiter, C., Minicucci, L., Uttner, I., Crispin, A., Ludwig, H., Gasser, T., & Yousry, T. A.
Affiliations: University of Milan (IT)
From the Departments of Neurology (Drs. DichgansUttner, and Gasser, and H. Ludwig), Medical Informatics, Biometry, and Epidemiology (A. Crispin), and Neuroradiology (Dr. Yousry), Klinikum Grosshadern, Ludwig-Maximilians-University, Munich, Germany; the Neuroimaging Research Unit (Drs. Filippi, Iannucci, and Minicucci), Department of Neuroscience, Scientific Institute Ospedale San Raffaele, University of Milan, Italy; and the Institute for Diagnostic Radiology (Drs. Brüning and Berchtenbreiter),...
ORCID: Dichgans, M.
Filippi, M.
Uttner, I.
Crispin, A.
Gasser, T.
Yousry, T.A.
Venue: Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 1999-04
Volume: 52
Issue: 7
Pages: 1361-1361
ISSN: 0028-3878 (ISSN-L)
1526-632X
DOI: 10.1212/wnl.52.7.1361
OpenAlex: W2150080259
Cited by: 120
References: 31
Citations by year: 2026: 2 · 2025: 1 · 2024: 3 · 2023: 3 · 2021: 3 · 2020: 2 · 2019: 3 · 2018: 2 · 2017: 4 · 2016: 3 · 2015: 1 · 2014: 4 · 2013: 6 · 2012: 3
FWCI: 5.76
Type: journal article
Language: en
Open access: closed
Locations: Neurology (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Topics: Health Sciences › Medicine › Clinical Neurology › Cerebrovascular and genetic disorders
Life Sciences › Neuroscience › Neurology › Neurological Disease Mechanisms and Treatments
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Keywords: CADASIL, NOTCH3 gene, cerebral small vessel disease, quantitative MRI, lesion volume, T1-weighted imaging, proton density-weighted imaging, disability, cognitive performance, outcome measures
MeSH terms: Adult, Aged, Brain, Cerebral Arterial Diseases, Cerebral Infarction, Cognition, Disability Evaluation, Female, Humans, Leukoencephalopathy, Progressive Multifocal, Magnetic Resonance Imaging, Male, Middle Aged

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Quantitative MRI in CADASIL: Correlation with disability and cognitive performance

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