Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
| Autor: | Rhea Yy Tan, Hugh S. Markus, Kathryn Urankar, Clare Bailey, Stefan Gräf, Anna M. Drazyk, Nicola Giffin |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty CADASIL Neuropathology Retrospective diagnosis Leukoencephalopathy Neuroimaging Leukoencephalopathies medicine Humans Stroke Retinal drusen Retrospective Studies business.industry Alopecia General Medicine Cerebral Infarction High-Temperature Requirement A Serine Peptidase 1 Middle Aged medicine.disease HTRA1 Mutation Spinal Diseases Neurology (clinical) business |
| Zdroj: | Practical neurology. 21(5) |
| ISSN: | 1474-7766 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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