Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL), is a genetic disease caused by mutations in the Notch3 gene. More than 170 monogenic mutations leading to the development of CADASIL have been reported. We describe a case of a patient and her family with compatible symptoms of CADASIL disease, in which a variable not yet described in the Notch3 gene was detected, that generates a probably pathogenic change in the protein.
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NOTCH3 Mutation Causes Glymphatic Impairment and Promotes Brain Senescence in CADASIL.
CNS Neurosci Ther
January 2025
Department of Neurology, Mental and Neurological Disease Research Center, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Aims: The aim of this study is to investigate the role of glymphatic function of cerebral autosomal dominant arteriopathy, subcortical infarcts, and leukoencephalopathy (CADASIL), the most common monogenic small vessel disease caused by NOTCH3 mutation, and to explore potential therapeutic strategies to improve glymphatic function.
Methods: We assessed glymphatic influx and efflux function in CADASIL mouse models (Notch3) and correlated these findings with brain atrophy in CADASIL patients. We also investigated the underlying mechanisms of glymphatic impairment, focusing the expression of AQP4 in astrocytic endfeet.
Monogenic causes of cerebral small vessel disease- models for vascular cognitive impairment and dementia?
Curr Opin Psychiatry
January 2025
Centre for Healthy Brain Ageing, University of New South Wales.
Purpose Of Review: Recent advancements in molecular biomarkers and therapeutic options for Alzheimer's disease have brought into focus the need for greater progress in the second most common cause of dementia, vascular cognitive impairment and dementia (VCID). We examine how the study of monogenic causes of VCID has contributed to the understanding of its pathophysiology and potential biomarker and treatment research.
Recent Findings: It is widely accepted that conditions which disrupt the cerebral small vessels contribute to vascular pathologies including stroke and cerebral microbleeds, ultimately leading to vascular cognitive impairment and dementia.
[A case of ischemic stroke in a patient with probable CADASIL].
Zh Nevrol Psikhiatr Im S S Korsakova
January 2025
Osh State University, Osh, Kyrgyzstan.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL) is a rare inherited disorder in which thickening of the walls of small and medium-sized blood vessels blocks blood flow to the brain. Diagnosis of CADASIL is based on clinical presentation, neuroimaging findings, and genetic predisposition. This disease is uncommon in children; typically, symptoms manifest in individuals between the ages of 20 and 40, though some may exhibit symptoms later in life.
View Article and Find Full Text PDFPrevalence of Fatigue and Associations With Depression and Cognitive Impairment in Patients With CADASIL.
Neurology
February 2025
Department of Clinical Neurosciences, University of Cambridge, United Kingdom.
Background And Objectives: Fatigue is a common and disabling symptom in cerebrovascular disease and has been associated with white matter damage, but the underlying disease mechanisms are poorly understood. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic form of stroke and causes a cerebral small vessel disease arteriopathy with white matter ischemia. We determined the prevalence of fatigue in CADASIL, the factors associated with it, and its relationship with both depression and cognitive impairment.
View Article and Find Full Text PDFIntracerebral hemorrhage in CADASIL.
J Chin Med Assoc
January 2025
Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, ROC.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene. This review highlights the increasing recognition of intracerebral hemorrhage (ICH) as a significant manifestation of CADASIL, often predominantly characterized by ischemic strokes and vascular dementia. Recent studies indicate that the prevalence of ICH in CADASIL patients ranges from 0.
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