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Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer's Disease.

Neuromolecular medicine - 19 Mar 2024

Ma Limin, Wang Fengyu, Chen Shuai, Wang Shenghui, Wang Zhenzhen, Xia Mingrong, Li Yongli, Ma Huimin, Shang Junkui, Zhang Jiewen

Abstract excerpt

Familial Alzheimer's disease (AD) is a rare disease caused by autosomal-dominant mutations. APP (encoding amyloid precursor protein), PSEN1 (encoding presenilin 1), and PSEN2 (encoding presenilin 2) are the most common genes cause dominant inherited AD. This study aimed to demonstrate a Chinese early-onset AD pedigree presenting as progressive memory impairment, apraxia, visual-spatial disorders, psychobehavioral...

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PMID: 38504005
DOI: 10.1007/s12017-023-08770-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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