title: [CADASIL: clinical analysis of CADASIL and CADASIL-like disorders in Japan].
abstract: To clarify the characteristics of CADASIL in Japan, we performed clinical and genetic investigations for six patients from 5 Japanese families diagnosed as CADASIL. We identified that the onset of focal neurologic deficits ranged from 38 to 63 years old (mean 49 +/- 9.4 yrs) and the occurrence rates of main neurologic symptoms and signs were 1/6 for migraine, 3/6 for recurrent stroke episodes, 6/6 for dementia, and 4/6 for pseudobulbar palsy. The marked narrowing of retinal arteries were observed in 3/6. The notch 3 mutations were all found in exon 4. Although other several families shared similar phenotype of CADASIL, there were no deposition of granular osmiophilic materials within the basal lamina of smooth muscle cells in the arterioles of biopsied muscle and no mutations in the cording regions of notch 3 gene. We investigated prospectively the incidence of CADASIL and CADASIL-like disease in Kumamoto district from 1999 to 2000. One thousand and thirty four patients with stroke were hospitalized in 6 hospitals which have stroke care unit. Among them, 7 patients fulfilled the criteria that were less than 60 years old, lacunar strokes and/or TIA, presence of a family history, and no risk factors such as hypertension, diabetes mellitus, and hyperlipidemia. One of seven patients was diagnosed as CADASIL by DNA analysis. It was suspected the incidences of CADASIL and CADASIL-like disease were not so rare in Japan.
authors.affiliation: Department of Neurology, Kumamoto University School of Medicine.
authors.forename: M
authors.initials: M
authors.lastname: Uchino
authors.forename: E
authors.initials: E
authors.lastname: Uyama
authors.forename: Y
authors.initials: Y
authors.lastname: Maeda
authors.forename: T
authors.initials: T
authors.lastname: Hirano
authors.forename: A
authors.initials: A
authors.lastname: Suenaga
authors.forename: H
authors.initials: H
authors.lastname: Yamada
authors.forename: Y
authors.initials: Y
authors.lastname: Hashimoto
authors.forename: S
authors.initials: S
authors.lastname: Kotorii
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: T
authors.initials: T
authors.lastname: Tabira
mesh_terms: D002544:Cerebral Infarction / Q000453:epidemiology; D015161:Dementia, Multi-Infarct / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011956:Receptors, Cell Surface
chemical_list: D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface