AI Article Synopsis
- * The affected individuals from these families experienced multiple strokes, depression, dementia, and specific MRI findings indicating high-intensity lesions in certain brain areas.
- * This study enhances understanding of CADASIL by presenting a novel mutation type and its associated clinical and imaging characteristics.
Article Abstract
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.
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| http://dx.doi.org/10.2169/internalmedicine.47.1391 | DOI Listing |
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