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KMID : 1100220160150010015
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Dementia and Neurocognitive Disorders
2016 Volume.15 No. 1 p.15 ~ p.19
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Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation
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Lee Jung-Seok
Ko Keun-Hyuk
Oh Jung-Hwan
Park Joon-Hyuk
Lee Ho-Kyu
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Abstract
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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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KEYWORD
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cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genotype, phenotype, NOTCH3, R544C mutation
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