title: Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue.
abstract: Most previously reported mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) result in an odd number of cysteine residues within the epidermal growth factor (EGF)-like repeats in Notch3. We report here R75P mutation in two Japanese CADASIL families not directly involving cysteine residues located within the first EGF-like repeats. Probands in both families had repeated episodes of stroke, depression, dementia as well as T2 high-intensity lesions in the basal ganglia and periventricular white matter, but fewer white matter lesions in the temporal pole on MRI. These families provide new insights into the diagnosis and pathomechanisms of CADASIL.
authors.affiliation: Department of Molecular Neurology, Kyoto Prefectural University of Medicine, Kyoto. mizuno@koto.kpu-m.ac.jp
authors.forename: Toshiki
authors.initials: T
authors.lastname: Mizuno
authors.forename: Manabu
authors.initials: M
authors.lastname: Muranishi
authors.forename: Torusunjian
authors.initials: T
authors.lastname: Torugun
authors.forename: Hiromi
authors.initials: H
authors.lastname: Tango
authors.forename: Yoshinari
authors.initials: Y
authors.lastname: Nagakane
authors.forename: Tukasa
authors.initials: T
authors.lastname: Kudeken
authors.forename: Yuji
authors.initials: Y
authors.lastname: Kawase
authors.forename: Kiyokazu
authors.initials: K
authors.lastname: Kawabe
authors.forename: Fumiko
authors.initials: F
authors.lastname: Oshima
authors.forename: Takeshi
authors.initials: T
authors.lastname: Yaoi
authors.forename: Kyoko
authors.initials: K
authors.lastname: Itoh
authors.forename: Shinji
authors.initials: S
authors.lastname: Fushiki
authors.forename: Masanori
authors.initials: M
authors.lastname: Nakagawa
mesh_terms: D044466:Asian People / Q000235:genetics*; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D003545:Cysteine / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D003545:Cysteine