CADASIL imitating multiple sclerosis: the importance of MRI markers
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can mimic multiple sclerosis (MS), leading to diagnostic confusion. We report a family with CADASIL in which the index case and the daughter of the index case were initially erroneously diagnosed with MS. Relatively specific magnetic resonance imaging (MRI) markers of CADASIL include involvement of the anterior temporal lobes and external capsules and, as illustrated in this report, these MRI findings may aid in the differentiation of the two conditions.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [52]
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 [52]
Cites
Tournier‐Lasserve, E., Joutel, A., Melki, J., Weissenbach, J., Lathrop, M. G., Chabriat, H., Mas, J., Cabanis, E. A., Baudrimont, M., Maciazek, J., et al. (1993) · Nature Genetics · doi:10.1038/ng0393-256 · Cited by 676 · see citing works
Clinical spectrum of CADASIL: a study of 7 families
Chabriat, H., Vahedi, K., Bousser, M. G., Iba-Zizen, M. T., Joutel, A., Nibbio, A., Nagy, T. G., Tournier Lasserve, E., Krebs, M. O., Julien, J., et al. (1995) · The Lancet · doi:10.1016/s0140-6736(95)91557-5 · Cited by 669 · see citing works
MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL
O’Sullivan, M., Jarosz, J. M., Martin, R. J., Deasy, N., Powell, J. F., & Markus, H. S. (2001) · Neurology · doi:10.1212/wnl.56.5.628 · Cited by 363 · see citing works
Patterns of MRI lesions in CADASIL
Chabriat, H., Levy, C., Taillia, H., Iba-Zizen, M.-T., Vahedi, K., Joutel, A., Tournier-Lasserve, E., & Bousser, M.-G. (1998) · Neurology · doi:10.1212/wnl.51.2.452 · Cited by 339 · see citing works
Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.
Tournier‐Lasserve, E., Iba-Zizen, M. T., Romero, N., & Bousser, M. (1991) · Stroke · doi:10.1161/01.str.22.10.1297 · Cited by 225 · see citing works
Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL)
Hutchinson, M., O’Riordan, J. I., Javed, M., Quin, E., MacErlaine, D. P., Willcox, T., Parfrey, N. A., Nagy, T., & Tournier‐Lasserve, E. (1995) · Annals of Neurology · doi:10.1002/ana.410380517 · Cited by 86 · see citing works
Self-citationWalter, C. A., Shaffer, L. G., Kaye, C. I., Huff, R. W., Ghidoni, P. D., McCaskill, C., McFarland, M. B., & Moore, C. M. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19961111)65:4 · Cited by 55 · see citing works
Skehan, S. J., Hutchinson, M., & MacErlaine, D. P. (1996) · PubMed · Cited by 53 · see citing works
Self-citationBroadley, S. (2001) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.71.1.97 · Cited by 16 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
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
“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].”
BackgroundCADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series
Khan, A., Abedi, V., Li, J., Malik, M. T., Esch, M., & Zand, R. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2020.00860 · Cited by 23 · see citing works
Tomimoto, H., Ohtani, R., Wakita, H., Lin, J.-X., Ihara, M., Miki, Y., Oshima, F., Murata, T., Ishibashi, K., Suenaga, T., et al. (2006) · Dementia and Geriatric Cognitive Disorders · doi:10.1159/000090677 · Cited by 20 · see citing works
- Authors
- O'Riordan, S., Nor, A. M., & Hutchinson, M.
- Affiliations
- Department of Neurology, St. Vincent’s University Hospital, Elm Park, Dublin 4, Ireland
- St. Vincent's University Hospital (IE)
- Corresponding author
- Hutchinson, M
- ORCID
- Hutchinson, M
- Venue
- Multiple Sclerosis Journal
- Publisher
- SAGE Publications
- Published
- 2002-10
- Volume
- 8
- Issue
- 5
- Pages
- 430-432
- ISSN
- 1352-4585 (ISSN-L)
- 1477-0970
- OpenAlex
- W2161362672
- Cited by
- 41
- References
- 9
- Citations by year
- 2025: 2 · 2024: 1 · 2021: 3 · 2020: 1 · 2019: 3 · 2017: 1 · 2016: 2 · 2015: 3 · 2014: 2 · 2013: 1 · 2012: 1
- FWCI
- 1.11
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Multiple Sclerosis Journal (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Vasculitis and related conditions
- Keywords
- CADASIL, multiple sclerosis, differential diagnosis, MRI markers, leukoencephalopathy, subcortical infarcts, familial case, misdiagnosis
- MeSH terms
- Adult, Brain, Diagnosis, Differential, Diagnostic Errors, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Multiple Sclerosis, Dementia, Multi-Infarct
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
