Article
Novel PSEN1 (P284S) Mutation Causes Alzheimer's Disease with Cerebellar Amyloid β-Protein Deposition.
Current Alzheimer research - 1 Jan 2022
Xia Mingrong, Gao Chenhao, Wang Huayuan, Shang Junkui, Liu Ruijie, You Yang, Zang Weizhou, Zhang Jiewen
Abstract excerpt
BACKGROUND/OBJECTIVE: AD-associated PSEN1 mutations exhibit high clinical heterogeneity. The discovery of these mutations and the analysis of their associations with cases such as EOAD should be critical to understanding AD's pathogenesis. METHODS: We performed clinical analysis, neuroimaging, target region capture and high-throughput sequencing, and Sanger sequencing in a family of 3 generations. The underlying...
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