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| Original Article | |||||
| Dementia and Neurocognitive Disorders 2016: 15: 1: 15-19 | |||||
| Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation | |||||
|---|---|---|---|---|---|
| Jung Seok Lee,1 KeunHyuk Ko,1 Jung-Hwan Oh,1 Joon Hyuk Park,2 Ho Kyu Lee3 | |||||
| Departments of 1Neurology, 2Psychiatry, and 3Radiology, Jeju National University Hospital, Jeju, Korea | |||||
| Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation | |||||
| Jung Seok Lee,1 KeunHyuk Ko,1 Jung-Hwan Oh,1 Joon Hyuk Park,2 Ho Kyu Lee3 | |||||
| Departments of 1Neurology, 2Psychiatry, and 3Radiology, Jeju National University Hospital, Jeju, Korea | |||||
| Background and Purpose Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most-common single gene disorder of cerebral small vessel disease. There is no definite evidence of genotype-phenotype correlation in CADASIL. However, recent studies have shown the unique phenotypic feature of NOTCH3 R544C mutation. Methods We investigated the phenotypic spectrum of NOTCH3 R544C mutation in 73 CADASIL patients in Jeju between April 2012 and January 2014. Results Of the 73 subjects from 60 unrelated families included in this study, 40 (55%) were men. The mean age of the subjects was 62.2± 12.2 (range 34–86 years). Cerebral infarction was the most frequent manifestation (37%), followed by cognitive impairment (32%), headache (17%), psychiatric symptom (16%), intracerebral hemorrhage (12%), transient ischemic attack (7%), and seizure (1%). The mean age of the subjects with ischemic or hemorrhagic episodes was 64.9±10.9 (range 41–86 years). A diagnosis of dementia was made in 12 subjects (16%). The mean age of the subjects with dementia was 75.6±6.5 (range 62–86 years). About 3% of subjects were unable to walk without assistance at assessment. Only one subject had developed chronic headache before the 40s. Conclusions Our data support the hypothesis that CADASIL patients with R544C mutation in Jeju have relatively late onset disease. |
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| Key Words: cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genotype, phenotype, NOTCH3, R544C mutation. | |||||
| 대한치매학회지 (Dementia and Neurocognitive Disorders) |
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