Two cases of clinical and MRI manifestations of genetically verified CADASIL syndrome in female patients under 40 years of age are presented. The primary misinterpretation of clinical data and the neuroimaging results within multiple sclerosis indicates a lack of awareness of radiologists and neurologists about this disease. The article reviewed the current literature on the problems of diagnosis and treatment of CADASIL. The clinical and neuroimaging pattern of the syndrome, the approaches to genetic testing and the basic principles of patient management are considered in detail.
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Intracerebral 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.
View Article and Find Full Text PDFTime to consider health services dedicated for adults living with cerebral small vessel disease: Report of a ESO scientific seminar.
Eur Stroke J
January 2025
Row Fogo Centre for Research into Ageing and the Brain, and UK Dementia Research Institute, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Purpose: Cerebral small vessel disease (cSVD) is a highly prevalent disorder leading to physical, cognitive and functional decline. We report key barriers in the management of individuals with cSVD, the potential benefit of cSVD-dedicated health services, and evidence from existing models of care for adults with cSVD.
Methods: We examined information from a scientific seminar developed between seven experts in cSVD during the eighth European Stroke Organisation Conference that discussed the optimal health care for adults with cSVD and what health services dedicated to cSVD should include.
Analysis of the pathogenicity and pathological characteristics of gene-sparing cysteine mutations and models.
Front Mol Neurosci
December 2024
Department of Neurology, Henan Province People's Hospital, Xinxiang Medical University, Zhengzhou, China.
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most common inherited cerebral small vessel diseases caused by the NOTCH3 gene mutation. This mutation leads to the accumulation of NOTCH3 extracellular domain protein (NOTCH3) into the cerebral arterioles, causing recurrent stroke, white matter lesions, and cognitive impairment. With the development of gene sequencing technology, cysteine-sparing mutations can also cause CADASIL disease, however, the pathogenicity and pathogenic mechanisms of cysteine-sparing mutations remain controversial.
View Article and Find Full Text PDFTargeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort.
Clin Chim Acta
December 2024
Queensland University of Technology (QUT), Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Faculty of Health, 60 Musk Ave., Kelvin Grove, Queensland 4059, Australia. Electronic address:
Background And Aims: Cerebral small vessel diseases (CSVDs) are a set of conditions that affect the small blood vessels in the brain and can cause severe neurological pathologies such as stroke and vascular dementia. The most common monogenic CSVD is cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) which is caused by mutations in NOTCH3. However, only 15-20% of CADASIL cases referred for genetic testing have pathogenic mutations in NOTCH3.
View Article and Find Full Text PDFDetermining 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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