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Article

Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.

Journal of the neurological sciences - 15 Jan 2017

Zhang Guili, Xie Yunyan, Wang Wei, Feng Xueyan, Jia Jianping

Abstract excerpt

The missense mutation V717I in amyloid precursor protein (APP) gene has been reported in many early-onset familial Alzheimer's disease (EOFAD) families. However, no detailed clinical picture regarding this mutation has ever been described for Chinese EOFAD. We investigate the age at onset (AAO), initial clinical features and non-cognitive neurological symptoms in 34 affected subjects from five Han Chinese EOFAD...

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Source

Identifiers

PMID: 27838006
DOI: 10.1016/j.jns.2016.10.039

Genes

APP
APOE

Variants

Provenance

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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