volume 25, issue 1, P145-150 2011
DOI: 10.3233/jad-2011-102031
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Ya-Ying Wu, Irene Han-Juo Cheng, Chin-Cheng Lee, Ming-Jang Chiu, Ming-Jen Lee, Ta-Fu Chen, Jung-Lung Hsu

Abstract: Familial Alzheimer's disease (FAD) is genetically heterogeneous, autosomal dominant, with nearly 100% penetrance. In FAD, most common causative genetic mutations are presenilin 1 (PSEN1), presenilin 2 and amyloid-β protein precursor. We demonstrate a family presenting as early-onset AD with a rapid deterioration course and seizure developed after 1.5 years of symptoms. A histopathological examination of the frontal cortex showed amyloid deposition and abundant phosphorylated tau deposition. In both cases, a si…

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