Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).
Pract Neurol
; 21(5): 448-451, 2021 Oct.
Article
em En
| MEDLINE
| ID: mdl-34433685
ABSTRACT
A 44-year-old Caucasian man presented with seizures and cognitive impairment. He had marked retinal drusen, and MR brain scan showed features of cerebral small vessel disease; he was diagnosed with a leukoencephalopathy of uncertain cause. He died at the age of 46 years and postmortem brain examination showed widespread small vessel changes described as a vasculopathy of unknown cause. Seven years postmortem, whole-genome sequencing identified a homozygous nonsense HTRA1 mutation (p.Arg302Ter), giving a retrospective diagnosis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
CADASIL
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Leucoencefalopatias
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Pract Neurol
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Reino Unido