A novel APP mutation (D678H) in a Taiwanese patient exhibiting dementia and cerebral microvasculopathy

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• 作者：Min-Yu Lan ; Jia-Shou Liu ; Yi-Shan Wu ; Chen-Huei Peng ; Yung-Yee Chang
• 关键词：Alzheimer&rsquo ; s disease ; Amyloid precursor protein ; Beta-amyloid peptide ; Cerebral amyloid angiopathy ; Mutation
• 刊名：Journal of Clinical Neuroscience
• 出版年：March, 2014
• 年：2014
• 卷：21
• 期：3
• 页码：513-515
• 全文大小：547 K

文摘

We report a novel missense mutation, D678H, in the APP gene in a Taiwanese patient who had progressive cognitive decline beginning in middle age. Brain MRI showed leukoencephalopathy, cortical microhemorrhages and focal superficial cortical hemosiderosis, which are consistent with cerebral amyloid angiopathy. A phenotype of combined dementia and cerebral microvasculopathy suggested concurrent increases in brain parenchymal and cerebrovascular beta-amyloid peptide (A尾) deposition in this patient. The promotion of A尾 aggregation has been postulated to underlie the pathogenic mechanism of the mutation.