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KMID : 0911820180190010021
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Korean Journal of Headache
2018 Volume.19 No. 1 p.21 ~ p.24
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CADASIL with Exon 6 Mutation Characterized as Migraine Without Aura and Later Onset
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Ji Yong-Bae
Kim Gyeong-Seon
Ban Su-Ji
Lee Jun-Beom
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Abstract
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CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is caused by NOTCH3 mutation clustered in exon 3-4 and characterized by migraine with aura beginning around 30 years in western countries. Other mutations such as exon 11 from South Korea and Taiwan showed low incidence and later onset of migraine and headaches other than migraine were frequently reported. Herein, we report a mutation in exon 6 of NOTCH3 (p.Cys240Trp) in a Korean CADASIL patient. Migraine characteristics of the patient was different from typical western CADASIL such as later onset age, migraine without aura and from asian CADASIL such as high prevalence of migraineurs in family. We could learn from this case that CADASIL should be included in the differential diagnosis in patients with recurrent stroke, later onset migraine without aura, normal cognitive and mild mood disturbances, and exon 6 mutation test should be considered in Korean CADASIL patients.
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KEYWORD
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CADASIL, NOTCH3, Migraine without aura
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