Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary small artery vasculopathy caused by mutations in the gene on chromosome 19. Jeju Island has the highest reported prevalence of CADASIL patients in the world. Even though most studies on the neuroimaging characteristics of CADASIL have focused on Western populations, there are notable differences in Korean CADASIL patients compared to those in Western countries, which may impact their clinical manifestations and prognosis. Herein, this pictorial essay presents the neuroimaging patterns of CADASIL in patients in Korea, with an emphasis on the differences observed from previous reports based on a Western patient population.
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| http://dx.doi.org/10.3348/jksr.2023.0004 | DOI Listing |
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Determining Clinical Disease Progression in Symptomatic Patients With CADASIL.
Neurology
January 2025
From the ARAMIS (S.K., S.T.D.M.), Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, CNRS, Inria, Inserm, AP-HP, Groupe Hospitalier Sorbonne Université; Centre de référence pour les maladies vasculaires rares du cerveau et de l'œil (CERVCO) and Centre Neurovascular Translationnel (CNVT) (D.H., A.J., S.R., C.M., S.G., A.T., F.F., H.C.), AP-HP, Paris; and INSERM U1141 - FHU NeuroVasc (D.H., S.G., H.C.), Université Paris Cité, France.
Background And Objectives: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent small artery brain disease caused by pathogenic variants of the NOTCH3 gene. During the disease, we still do not know how the various deficits progress and develop with each other at different stages of the disease. We aim to model disease progression and identify possible progressive subgroups and the effects of different covariates on clinical worsening.
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Neurol Sci
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UOSD Centro Demenze, University of Rome Tor Vergata, Viale Oxford 81, 00133, Rome, Italy.
Introduction: The NOTCH3 gene encodes for an evolutionarily conserved protein, whose functions encompass both embryonic cell proliferation and adult tissue-specific differentiation. Among others, a pivotal role in maintaining functional integrity of neurovascular unit (NVU) is supported by the association of several NOTCH3 gene mutations with neuroimaging markers of cerebral small vessel disease (SVD). Indeed, a pathogenic role of NOTCH3 is recognised in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
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Health Science, Fukui Health Science University, Fukui, JPN.
This report describes the case of a 48-year-old Japanese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) who also presented with aortic dissection. The patient had a history of hypertension, diabetes mellitus, dyslipidemia, and mild renal failure but had not received any treatment. He developed back pain and was diagnosed with type A aortic dissection via contrast-enhanced chest computed tomography (CT).
View Article and Find Full Text PDFDisease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL.
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Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
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- NOTCH3cys variants are common and linked to various small vessel diseases, including early-onset stroke and dementia, but there is no comprehensive staging system to assess their severity.
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Short-Term Frequently Relapsing Ischemic Strokes Followed by Rapidly Progressive Dementia in CADASIL: A Case Report and Literature Review.
Neurologist
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Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology.
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease with slow natural progression. Ischemic stroke and cognitive impairment are its most common clinical symptoms. Here, we report a rare 50-year-old woman who had rapid disease progression with c.
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