Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.
CADASIL
NOTCH3 mutation
biomarker
magnetic resonance imaging
Journal
Journal of clinical neurology (Seoul, Korea)
ISSN: 1738-6586
Titre abrégé: J Clin Neurol
Pays: Korea (South)
ID NLM: 101252374
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
received:
21
09
2022
revised:
06
11
2022
accepted:
09
11
2022
entrez:
6
1
2023
pubmed:
7
1
2023
medline:
7
1
2023
Statut:
ppublish
Résumé
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic disorder of the cerebral small blood vessels. It is caused by mutations in the NOTCH3 gene on chromosome 19, and more than 280 distinct pathogenic mutations have been reported to date. CADASIL was once considered a very rare disease with an estimated prevalence of 1.3-4.1 per 100,000 adults. However, recent large-scale genomic studies have revealed a high prevalence of pathogenic
Identifiants
pubmed: 36606642
pii: 19.12
doi: 10.3988/jcn.2023.19.1.12
pmc: PMC9833879
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
12-27Subventions
Organisme : Jeju National University
Pays : Korea
Informations de copyright
Copyright © 2023 Korean Neurological Association.
Déclaration de conflit d'intérêts
The authors have no potential conflicts of interest to disclose.
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