title: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy without anterior temporal pole involvement: a case report.
abstract: The location of white matter lesions, especially in the anterior temporal poles (ATP), is helpful in the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We report a 49-year-old man with CADASIL who developed migraine with atypical aura, silent lacunar infarcts, and leukoencephalopathy without involvement of the ATP. The prevalence of migraine with aura in subjects with CADASIL is several times greater than that in the general population. Particularly in patients with CADASIL, the aura is often atypical (hemiplegic, basilar, or prolonged). A diagnosis of CADASIL should be considered in patients with lacunar infarcts, leukoencephalopathy, and migraine with atypical aura, even in the absence of white matter lesion in the ATPs.
authors.affiliation: Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
authors.forename: Junpei
authors.initials: J
authors.lastname: Kobayashi
authors.affiliation: Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan. Electronic address: sato.shoichiro.hp@ncvc.go.jp.
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Sato
authors.affiliation: Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan; Department of Neurology, Kumamoto University, Kumamoto, Japan.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Okumura
authors.affiliation: Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
authors.forename: Fumio
authors.initials: F
authors.lastname: Miyashita
authors.affiliation: Department of Neurology, Kumamoto University, Kumamoto, Japan.
authors.forename: Akihiko
authors.initials: A
authors.lastname: Ueda
authors.affiliation: Department of Neurology, Kumamoto University, Kumamoto, Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
authors.affiliation: Department of Cerebrovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan.
authors.forename: Kazunori
authors.initials: K
authors.lastname: Toyoda
mesh_terms: D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000150:complications; D010641:Phenotype; D017354:Point Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch
keywords: Leukoencephalopathy; Notch3; lacunar infarcts; migraine