p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL
| Autor: | Takashi Kanda, Tetsu Kurokawa, Naoko Okayama, Masatoshi Omoto, Kiyoshi Negoro, Fumitaka Shimizu, Motoharu Kawai, Yuji Hinoda, Yutaka Suehiro, Yasuteru Sano, Hirosuke Fujisawa, Michiyasu Suzuki |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Pathology DNA Mutational Analysis Mutation Missense CADASIL Disease Syncope Brain Ischemia Leukoencephalopathy Exon Asian People Recurrence Internal Medicine medicine Missense mutation Humans Receptor Notch3 DNA Primers biology Base Sequence Receptors Notch business.industry Syncope (genus) Brain General Medicine Middle Aged medicine.disease biology.organism_classification Phenotype Magnetic Resonance Imaging Pedigree Amino Acid Substitution Mutation (genetic algorithm) Female business Intracranial Hemorrhages |
| Zdroj: | Internal medicine (Tokyo, Japan). 50(22) |
| ISSN: | 1349-7235 |
| Popis: | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a cerebrovasuclar disease caused by NOTCH3 mutations, usually localized to exons 3 and 4. This report describes the clinical and neuroradiological findings of 2 subjects of two unrelated Japanese families who shared a common p.Arg332Cys mutation. The subject from family A presented syncope attacks as the sole clinical presentation at the beginning of his disease course. The subject from family B showed recurrent ischemic attacks, followed by a large intracranial hemorrhage. This is the first report to describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in Japan. |
| Databáze: | OpenAIRE |
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