We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel mutation in the NOTCH3 gene. The patient's clinical features were rather unusual in that 1) clinical presentations were only two episodes of stroke and mild dementia unaccompanied by mood disturbances or migraine, and 2) there was no family history. Brain MRI showed T2 hyperintensities in both temporal pole areas in line with the recent suggestion by O'Sullivan et al. that the abnormality could be a radiologic marker of CADASIL. FDG-PET also showed a hypometabolism in the temporal pole areas with an abnormal finding on MRI in addition to the hypometabolism in cortical and subcortical regions. We could learn from this case that CADASIL may be included in the differential diagnoses in patients with vascular dementia associated with a small vessel disease, even in the absence of a family history, especially when there are no known stroke risk factors and when the MRI shows T2 hyperintensity in the temporal pole regions.
Amino Acid Substitution ; Biopsy ; Brain/pathology ; Codon/genetics ; Dementia, Multi-Infarct/diagnosis ; Dementia, Multi-Infarct/genetics* ; Dementia, Multi-Infarct/pathology ; Dementia, Multi-Infarct/radionuclide imaging ; Female ; Human ; Korea ; Magnetic Resonance Imaging ; Middle Aged ; Mutation, Missense* ; Neuropsychological Tests ; Point Mutation* ; Proto-Oncogene Proteins/genetics* ; Skin/pathology ; Tomography, Emission-Computed

OBJECTIVETo study the effect of Sailuotong capsule (Sailuotong) on learning and memory functions of multi-infarct dementia (MID) rats and its mechanism.

METHODAll SD rats were divided into five groups, namely the sham operation group, the model group, the positive group, the low dosage Sailuotong-treated group and the high dosage Sailuotong-treated group. The multi-infarct dementia model was established by injecting the micro-sphere vascular occlusive agent. On the 10th day after the successful operation, the rats were administered intragastrically with distilled water, memantine hydrochloride (20 mg x kg(-1)) and Sailuotong (16.5 mg x kg(-1) and 33.0 mg x kg(-1)) once a day for 60 days respectively, in order to detect the effect of Sailuotong in different doses on the latent period and route length in Morris water maze and the activities of choline acetyltransferase (ChAT) and acetylcholinesterase (AchE) in brain tissues.

RESULTCompared with the sham operation rats, it had been observed that the latent period and route length of MID rats in Morris water maze were significantly increased (P < 0.05 or P < 0.01), and the activity of ChAT in brain tissues was significantly decreased (P < 0.05). After the intervention with Sailuotong for sixty days, the latent period and route length of MID rats in Morris water maze significantly shrank (P < 0.05 or P < 0.01). Additionally, Sailuotong decreased AchE activity, while increasing ChAT activity in brain tissues of MID rats (P < 0.05 or P < 0.01).

CONCLUSIONSailuotong capsule can improve cognitive dysfunction of MID rats to some extent. Its mechanism may be related to its different regulation of activities of ChAT and AchE in brain tissues.

Acetylcholinesterase ; metabolism ; Animals ; Brain ; metabolism ; pathology ; Choline O-Acetyltransferase ; metabolism ; Cognition Disorders ; drug therapy ; etiology ; metabolism ; Dementia, Multi-Infarct ; complications ; metabolism ; Drugs, Chinese Herbal ; administration & dosage ; pharmacology ; Male ; Maze Learning ; drug effects ; Rats ; Rats, Sprague-Dawley