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| Case Report | |||||
| Dementia and Neurocognitive Disorders 2016: 15: 2: 52-54 | |||||
| Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | |||||
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| Byung Woo Choi,* Seongho Park,* Hee-Jin Kim | |||||
| Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea | |||||
| Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | |||||
| Byung Woo Choi,* Seongho Park,* Hee-Jin Kim | |||||
| Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea | |||||
| Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation. Case Report A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL. Conclusions We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment. |
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| Key Words: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, c.499C>T, p.P167S. | |||||
| 대한치매학회지 (Dementia and Neurocognitive Disorders) |
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