title: p.Arg332Cys mutation of NOTCH3 gene in two unrelated Japanese families with CADASIL.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is a cerebrovasuclar disease caused by NOTCH3 mutations, usually localized to exons 3 and 4. This report describes the clinical and neuroradiological findings of 2 subjects of two unrelated Japanese families who shared a common p.Arg332Cys mutation. The subject from family A presented syncope attacks as the sole clinical presentation at the beginning of his disease course. The subject from family B showed recurrent ischemic attacks, followed by a large intracranial hemorrhage. This is the first report to describe the detailed phenotypes of patients with a rare p.Arg332Cys mutation in Japan.
authors.affiliation: Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Japan.
authors.forename: Yasuteru
authors.initials: Y
authors.lastname: Sano
authors.forename: Fumitaka
authors.initials: F
authors.lastname: Shimizu
authors.forename: Motoharu
authors.initials: M
authors.lastname: Kawai
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Omoto
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Negoro
authors.forename: Tetsu
authors.initials: T
authors.lastname: Kurokawa
authors.forename: Hirosuke
authors.initials: H
authors.lastname: Fujisawa
authors.forename: Michiyasu
authors.initials: M
authors.lastname: Suzuki
authors.forename: Naoko
authors.initials: N
authors.lastname: Okayama
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Suehiro
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hinoda
authors.forename: Takashi
authors.initials: T
authors.lastname: Kanda
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001921:Brain / Q000098:blood supply / Q000473:pathology; D002545:Brain Ischemia / Q000235:genetics; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D020300:Intracranial Hemorrhages / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D012008:Recurrence; D013575:Syncope / Q000235:genetics
chemical_list: D017931:DNA Primers; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch