An unusual case of elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with multiple cerebrovascular risk factors.
Here we report a female patient with elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). At age 71, she developed gait disturbance, followed by memory disturbance 1 year later. She had been treated for hypertension and diabetes mellitus for 19 years. There apparently was low penetrance of disease. Magnetic resonance imaging (MRI) findings showed typical features of CADASIL, and the R607C mutation was detected in exon 11 in NOTCH3. This case strongly indicates that CADASIL should be considered when typical findings are observed on MRI even in cases of elderly onset with multiple cerebrovascular risk factors.
Watanabe
Mitsunori
M
Department of Neurology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan. miwata36@cc.hirosaki-u.ac.jp
Adachi
Yoshiki
Y
Jackson
Mandy
M
Yamamoto-Watanabe
Yukiko
Y
Wakasaya
Yasuhito
Y
Shirahama
Ikumi
I
Takamura
Ayumi
A
Matsubara
Etsuro
E
Kawarabayashi
Takeshi
T
Shoji
Mikio
M
D000368:Aged; D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008569:Memory Disorders / Q000209:etiology; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D012307:Risk Factors
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch