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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 vs. 0.7637 × 10 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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http://dx.doi.org/10.1016/j.msard.2024.105856 | DOI Listing |
Eur J Case Rep Intern Med
August 2025
National Rehab Hospital, Dublin, Ireland.
Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.
View Article and Find Full Text PDFGenes (Basel)
July 2025
Neuroradiology Unit, Ospedale Santa Maria della Misericordia, AULSS 5 Polesana, 45100 Rovigo, Italy.
: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a prevalent Mendelian disorder caused by mutations in the gene, primarily impacting cerebral small blood vessels. This review aims to explore the involvement of large intracranial arteries in CADASIL, particularly focusing on the association with polymorphisms, especially in Asian populations. : A comprehensive literature review was conducted to gather data on the morphological features of both small and large intracranial arteries in CADASIL, examining clinical manifestations, imaging findings, and genetic associations.
View Article and Find Full Text PDFBMC Neurol
August 2025
Department of Neurology, Peking University First Hospital, Beijing, China.
Background And Purpose: Heterozygous HTRA1-related cerebral small vessel disease (hHTRA1-CSVD) presents diagnostic challenges due to its clinical and imaging similarities with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and sporadic cerebral small vessel disease (CSVD). Recently, the "chocolate chip sign" around the midbrain has been proposed as a potential imaging marker for hHTRA1-CSVD. However, the diagnostic value of similar findings around the pons remains unclear.
View Article and Find Full Text PDFBackground: Extensive white matter hyperintensities are a hallmark of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small-vessel disease caused by pathogenic variants. This study aimed to assess microstructural white matter integrity in symptomatic and premanifest CADASIL individuals utilizing peak width of skeletonized mean diffusivity (PSMD), a diffusion tensor imaging-based metric.
Methods: A total of 161 participants were recruited, including 60 patients with symptomatic CADASIL, 67 preclinical variant carriers, and 34 healthy controls.
Parkinsonism Relat Disord
August 2025
Department of Neurology, Tri-Service General Hospital, National Defense Medical University, Taipei, Taiwan. Electronic address:
Background: Vascular parkinsonism (VP) is a heterogeneous syndrome caused by cerebrovascular pathology. While generally distinguishable from Parkinson's disease (PD), overlap may occur in some cases. The genetic basis of VP remains unclear.
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