Comparing the imaging characteristics of middle-aged patients with multiple sclerosis and CADASIL: A retrospective cross-sectional study
Open accessAbstract
Background Few studies have quantitatively analyzed the imaging disparities between multiple sclerosis (MS) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to compare the imaging characteristics of MS and CADASIL in middle-aged patients. Materials and Methods This retrospective study used a single-center database and included patients aged 40–60 years with MS and CADASIL who underwent the designated imaging protocol including 3D T1-weighted imaging and fluid attenuated inversion recovery (FLAIR), diffusion tensor imaging and susceptibility-weighted imaging between January 2018 and March 2023. Patients with MRI-detected macrobleeds were excluded. Results A total of 27 patients with MS (mean age, 46.7 years ± 4.4, 8 men) and 30 patients with CADASIL (mean age, 51.6 years ± 5.8, 14 men) were included. No significant differences were observed in the Fazekas grades of white matter lesions (WMLs). Patients with CADASIL exhibited greater external capsule involvement (56.7% vs.18.5 %; p = 0.006), whereas the MS group had more lesions in the corpus callosum (81.5% vs. 53.3 %, p = 0.02) and brainstem (74.1% vs. 46.7 %, p = 0.04). The CADASIL group exhibited a higher incidence of microbleeds (12.07 vs. 0.11, p = 0.001). The WMLs in the MS group exhibited a lower T1 lesion/cerebrospinal fluid signal index (2.206 vs. 2.882, p < 0.001). A value of ≤2.57 demonstrated a sensitivity of 92.6 % and a specificity of 90.0 % in differentiating MS. Patients with MS had a thinner corpus callosum (7.18 mm vs 7.86 mm, p = 0.04), while patients with CADASIL showed significantly higher mean diffusivity (0.8776 × 10 –3 vs. 0.7637 × 10 –3 mm2/s, p = 0.03) and lower fractional anisotropy (0.7581 vs. 0.8389, p = 0.04) in the splenium of the corpus callosum. Conclusion Middle-aged patients with MS and CADASIL showed comparable Fazekas grades for WMLs. However, lesion distribution, T1 signal characteristics, and splenic diffusivity changes can help differentiate between MS and CADASIL.
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CADASIL may initially lack classic temporal pole or external capsule involvement, leading to misclassification as demyelinating disease.
“The diagnostic challenge is further compounded by the fact that CADASIL may initially lack classic temporal pole or external capsule involvement, leading to misclassification as demyelinating disease.4”
From Multiple Sclerosis Misdiagnosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (2026) · cites this paper as [4]
The Results (section 3.2; page not provided) report external capsule involvement in 56.7% of patients with CADASIL, so it was absent in others. The Discussion (section 4) says anterior temporal lobe involvement varies, and the Introduction (section 1) reports that CADASIL has been initially misdiagnosed as MS. This retrospective cross-sectional study does not establish that either feature was absent initially or that its absence led to misclassification. (LLM, conf=0.86)
Experimental — accuracy not yet measuredA subsequent CADASIL diagnosis is often made after progressive ischemic events, characteristic white matter changes, or as clear family history emerges.
“A subsequent CADASIL diagnosis is often made after progressive ischemic events, characteristic white matter changes, or as clear family history emerges.2-5”
From Multiple Sclerosis Misdiagnosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (2026) · cites this paper as [4]
The Introduction (page unavailable) identifies stroke and transient ischemic attacks as CADASIL manifestations and white matter lesions as characteristic MRI findings; it also notes that some patients are initially misdiagnosed with MS. The paper does not say that CADASIL is often diagnosed only after progressive ischemic events or as family history emerges. The Study population section (page unavailable) says diagnosis was confirmed by NOTCH3 genetic testing. (LLM, conf=0.83)
Experimental — accuracy not yet measuredCADASIL can be misdiagnosed as multiple sclerosis.
“Despite these characteristic features, CADASIL can be misdiagnosed as multiple sclerosis (MS).2-4”
From Multiple Sclerosis Misdiagnosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (2026) · cites this paper as [4]
Prominent microbleeds favor a small vessel disease diagnosis rather than MS.
“Furthermore, a high CMB burden (>10) and region-specific CMB distribution were observed only in correctly diagnosed patients, suggesting that prominent microbleeds favor a small vessel disease diagnosis rather than MS.1,4,10”
From Multiple Sclerosis Misdiagnosis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (2026) · cites this paper as [4]
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Corpus callosum texture analysis: a different perspective approach for diagnosing multiple sclerosis
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- Authors
- Hung, K., Chen, C.-H., Wu, W.-C., Su, J.-J., Chen, Y.-F., & Tang, S.-C.
- Affiliations
- National Taiwan University Hospital (TW)
- National Taiwan University (TW)
- Corresponding author
- Su, Jen-Jen
- Chen, Ya-Fang
- Venue
- Multiple Sclerosis and Related Disorders
- Publisher
- Elsevier BV
- Published
- 2024-11
- Volume
- 91
- Pages
- 105856
- ISSN
- 2211-0348 (ISSN-L)
- OpenAlex
- W4402168180
- Cited by
- 3
- References
- 35
- Citations by year
- 2026: 2 · 2025: 1
- FWCI
- 0.80
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Multiple Sclerosis and Related Disorders (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- National Science and Technology Council (NSTC111-2314-B-002-134)
- Topics
- Health Sciences › Medicine › Neurology › Cerebrovascular and genetic disorders
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced MRI Techniques and Applications
- Keywords
- multiple sclerosis, CADASIL, cerebral small vessel disease, white matter lesions, corpus callosum, microbleeds, corpus callosum thinning, mean diffusivity, fractional anisotropy, diffusion tensor imaging, susceptibility-weighted imaging, FLAIR, differential diagnosis, middle-aged patients
- MeSH terms
- Adult, Corpus Callosum, Cross-Sectional Studies, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Multiple Sclerosis, Retrospective Studies, CADASIL, Diffusion Tensor Imaging, White Matter
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