Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue.
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.
Mizuno
Toshiki
T
Department of Molecular Neurology, Kyoto Prefectural University of Medicine, Kyoto. mizuno@koto.kpu-m.ac.jp
Muranishi
Manabu
M
Torugun
Torusunjian
T
Tango
Hiromi
H
Nagakane
Yoshinari
Y
Kudeken
Tukasa
T
Kawase
Yuji
Y
Kawabe
Kiyokazu
K
Oshima
Fumiko
F
Yaoi
Takeshi
T
Itoh
Kyoko
K
Fushiki
Shinji
S
Nakagawa
Masanori
M
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*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; D003545:Cysteine