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- W2375821107 abstract "Objective To investigate the relationship between the clinical manifestations and MRI changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods Four patients from the same generation in a family underwent the routine MRI and MRA. Three cases (the proband and 2 sisters) were comfirmed by the Notch3 genetic testing and skin biopsy, other one (the brother) was diagnosed as cerebral autosomal dominant arteriopathy by MRI and clinical examination. The brain lesion signal characteristic, distribution area, distribution regularity, brain atrophy and the related clinical manifestations were all analysed. Results In the proband, skin biopsy revealed granular osmiophilic materials on the surface of vascular smooth muscle cells of subcutaneous arterioles, gene testing detected Notch3 gene mutation, and clinical presentations indicated progressive memory deterioration associated with hemiparesis. There were 5 affected family members (onset at 43-48 years old) mainly with dementia and hemiparesis in 2 consequential generations. MRI showed multiple small focal cerebral infarcts, extensive white matter hypointensity at deep part of the brain and O'Sullivan sign. Approximately symmetric and extensive foci were found at the white matter of bilateral subcortex of frontal and parietal lobe and beside the lateral cerebral ventricle. Encephalatrophy, subcortical cerebral lacunar infarct, ″人″ shape sign, various old basal ganglion and brain stem lacunar infarcts, black holes sign and pepperpot sign were also seen. Mini-Mental State Examination (MMSE) scores were 21 in the proband, 23 in the elder sister, 22 in the younger sister and 29 in the brother. Coulthard scores were 32 in the proband, 29 in the elder sister, 25 in the younger sister and 27 in the brother. Conclusion Coulthard score indicates that CADASIL patients with dementia may have more extensive MRI changes, but Coulthard score can not correctly reflect the clinical manifestations in the early stage of the disease." @default.
- W2375821107 created "2016-06-24" @default.
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- W2375821107 date "2007-01-01" @default.
- W2375821107 modified "2023-09-23" @default.
- W2375821107 title "Clinical and MRI manifestation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" @default.
- W2375821107 hasPublicationYear "2007" @default.
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