Cognitive profile of CADASIL patients with R544C Notch3 mutation.
BACKGROUND
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited microangiopathy caused by mutations in the Notch3 gene. In the present study, we aimed to analyze cognitive and neuroimaging profiles of CADASIL patients with R544C mutation.


METHODS
Fifty-eight consecutive patients with R544C mutation and 26 normal controls were investigated. The patients were divided into two groups depending on the presence (CADASIL with dementia: CADASIL-D) or absence of dementia (CADASIL no dementia: CADASIL-ND). We applied the same neuropsychological test to the three groups. Brain magnetic resonance images were obtained from 58 patients with R544C mutation. Linear regression models were used to assess the impact of lacunes and white matter hyperintensities on cognitive function in the CADASIL-ND group.


RESULTS
Compared to controls, the CADASIL-ND group demonstrated significant difficulties concerning measures of attention, executive function, and motor control. The CADASIL-D group was impaired in all cognitive domains that were assessed, except the language domain. After correction for age and educational level, the number of lacunes was associated with lower scores in the Alzheimer's Disease Assessment Scale cognitive subtest and Stroop color test in the CADASIL-ND group.


CONCLUSIONS
Non-Caucasian CADASIL patients with R544C mutation and Caucasian CADASIL patients show similar patterns of cognitive impairment.
Preventive Medicine, Jeju National University College of Medicine, Jeju, South Korea.
Jung-Kook
JK
Song
Young Ook
YO
Noh
Jung Seok
JS
Lee
D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D001288:Attention; D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000523:psychology*; D003071:Cognition; D003704:Dementia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004522:Educational Status; D056344:Executive Function; D005260:Female; D006801:Humans; D007723:Korea; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009043:Motor Activity; D009154:Mutation; D009483:Neuropsychological Tests; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D066127:White Matter / Q000473:pathology
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch