Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene
Abstract
Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADASIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene.
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Anterior temporal lobe involvement on MRI is highly specific and can distinguish CADASIL from other conditions.
“Previous evidence suggests that anterior temporal lobe involvement on MR images is highly specific and allows for distinguishing CADASIL from other conditions [1, 2, 10, 27, 43, 52, 54, 64, 68–70, 76].”
From Clinical and research applications of magnetic resonance imaging in the study of CADASIL (2019) · cites this paper as [10]
External capsule lesions have been proposed as a potential diagnostic feature of CADASIL, but they occur in a lower proportion of patients and have lower diagnostic specificity.
“The presence of lesions in the external capsule has also been proposed as a potential diagnostic feature of CADASIL [1, 3, 9, 10, 43, 52, 54, 58, 64, 65, 76], although it has been reported in a lower proportion of patients and has been associated with a lower diagnostic specificity [69].”
From Clinical and research applications of magnetic resonance imaging in the study of CADASIL (2019) · cites this paper as [10]
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Clinical and research applications of magnetic resonance imaging in the study of CADASIL
Schoemaker, D., Quiroz, Y. T., Torrico-Teave, H., & Arboleda-Velasquez, J. F. (2019) · Neuroscience Letters · doi:10.1016/j.neulet.2019.01.014 · Cited by 36 · see citing works
- Authors
- Chawda, S. J., De Lange, R. P. J., Hourihan, M. D., Halpin, S. F. S., & St. Clair, D.
- Affiliations
- Royal London Hospital (GB)
- University Hospital of Wales (GB)
- Venue
- Neuroradiology
- Published
- 2000-04-19
- Volume
- 42
- Issue
- 4
- Pages
- 249-255
- ISSN
- 0028-3940 (ISSN-L)
- 1432-1920
- OpenAlex
- W2094739807
- Cited by
- 18
- References
- 26
- Citations by year
- 2022: 1 · 2019: 2 · 2018: 1 · 2014: 1
- FWCI
- 0.66
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Neuroradiology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- CADASIL, cerebral small vessel disease, NOTCH3 gene mutation, familial cerebral small vessel disease, white matter lesions, frontal lobe, external capsule, MRI diagnosis, differential diagnosis, multiple sclerosis, genetic screening
- MeSH terms
- Adult, Aged, Cerebral Cortex, Diagnosis, Differential, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Pedigree, Dementia, Multi-Infarct, Mutation, Missense
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