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
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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“The overall lesion load observed on T1-weighted MR images has been associated with the degree of global disability, often quantified using the modified Rankin Scale [4], and with performance on different cognitive domains [18, 76].”
From Clinical and research applications of magnetic resonance imaging in the study of CADASIL (2019) · cites this paper as [18]
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Morphometric Study of Cerebral Arterioles in CADASIL
Miao, Q. (2011) · UTUPub (University of Turku)
Aspectos neuropsiquiátricos de las enfermedades cerebro-vasculares
Flórez, J. F. G. (2007) · Redalyc (Universidad Autónoma del Estado de México)
Untersuchungen zum Mutationsspektrum bei CADASIL
Ludwig, H. (2005) · Elektronische Hochschulschriften der LMU München (Ludwig-Maximilians-Universität München) · doi:10.5282/edoc.7477
Self-citationCerebrovascular disease: vascular dementia and vascular cognitive impairment
Larner, A. J. (2008) · Cambridge University Press eBooks · doi:10.1017/cbo9780511545009.004
Management of CADASIL syndrome
Ragno, M., & Trojano, L. (2013) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2013.828998
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Vascular Contributions to Late Life Depression
Park, J. H. (2017) · Current Behavioral Neuroscience Reports · doi:10.1007/s40473-017-0128-3
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HEREDITARY AND GENETIC CONDITIONS AND MALFORMATIONS
Caplan, L. R., & Bogousslavsky, J. (2008) · Cambridge University Press eBooks · doi:10.1017/cbo9780511544897.017
Neuropsychiatric Symptoms of CADASIL
Chabriat, H., & Reyes, S. (2013) · Neuropsychiatric symptoms of neurological disease · doi:10.1007/978-1-4471-2428-3_10 · Cited by 4
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Chabriat, H., & Bousser, M. (2017) · EMC - Neurologia · doi:10.1016/s1634-7072(17)85562-8
Cerebrovascular disease: vascular dementia and vascular cognitive impairment
Larner, A. J. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139176095.005
Suh, Y. R., Lee, H. K., Jung, K. H., Lee, J. S., & Choi, J. C. (2023) · Journal of the Korean Society of Radiology · doi:10.3348/jksr.2023.0004
Schröder, H., de Vos, R. A. I., Huggenberger, S., Müller-Thomsen, L., Rozemüller, A. J. M., Hedayat, F., & Moser, N. (2023) · Springer eBooks · doi:10.1007/978-3-030-89980-6_3
Axonal Degeneration as a Predictor of Outcome in Neurological Disorders
Medana, I. M., DeLuca, G. C., & Esiri, M. M. (2005) · Elsevier eBooks · doi:10.1016/b978-012738761-1/50027-4
Guey, S., & Chabriat, H. (2026) · Encyclopédie médico-chirurgicale. Neurologie · doi:10.1016/s0246-0378(26)49795-x
Guey, S., & Chabriat, H. (2026) · EMC - Neurologia · doi:10.1016/s1634-7072(26)52356-0
Metadata
- 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),...
- Venue
- Neurology
- Published
- 1999-04
- Volume
- 52
- Issue
- 7
- Pages
- 1361-1361
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- 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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