Sporadic vascular dementia as clinical presentation of a new missense mutation within exon 7 of NOTCH3 gene.
J Neurol Sci
; 271(1-2): 207-10, 2008 Aug 15.
Article
em En
| MEDLINE
| ID: mdl-18499132
ABSTRACT
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disease characterized by ischemic stroke with early onset, migraine, seizures, and vascular dementia. CADASIL is associated with mutations within NOCT3 gene, mainly clustered in exons 3 and 4. We report a case of CADASIL presenting progressive subcortical dementia in the sixth decade. Neither family history, nor acute ischemic events were present. MRI findings were typical for CADASIL. NOTCH3 analysis disclosed a new missense mutation within exon 7, leading to the substitution of cysteine 366 with a tryptophan (Cys366Trp). Our finding suggests CADASIL diagnosis must be considered in patients with vascular dementia also in absence of stroke-like events and of family history.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Triptofano
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Éxons
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Mutação de Sentido Incorreto
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Cisteína
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CADASIL
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Receptores Notch
Limite:
Female
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Humans
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Middle aged
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article