[The hereditary vessel disease CADASIL].
Laeknabladid
; 110(7): 360-364, 2024 Jul.
Article
em Is
| MEDLINE
| ID: mdl-38934718
ABSTRACT
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary small vessel disease of the brain characterized by progressive white matter lesions, subcortical infarcts, and cognitive decline. This autosomal dominant disorder is caused by mutations in the NOTCH3 gene located on chromosome 19, resulting in the accumulation of granular osmiophilic material within the walls of small arteries and arterioles. Clinically, CADASIL typically manifests in mid-adulthood with recurrent ischemic events, migraine with aura, mood disturbances, and cognitive impairment. Neuroimaging plays a crucial role in the diagnosis of CADASIL, with characteristic findings including white matter hyperintensities particularly in the anterior temporal lobe and external capsule.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Predisposição Genética para Doença
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CADASIL
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Receptor Notch3
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Mutação
Limite:
Humans
Idioma:
Is
Revista:
Laeknabladid
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Islândia
País de publicação:
ICELAND
/
IS
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ISLANDIA
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ISLÂNDIA