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Article

Very early-onset sporadic Alzheimer's disease with a de novo mutation in the PSEN1 gene.

Neurobiology of aging - 1 May 2017

Lou Fan, Luo Xiaoguang, Li Ming, Ren Yan, He Zhiyi

Abstract excerpt

We report a 22-year onset age man diagnosed with rapidly progressing early-onset Alzheimer's disease with predominant extrapyramidal symptoms as the initial presenting symptoms and V391G mutation in presenilin 1 gene (PSEN1) was founded. The unaffected parents of the proband are not carriers of the mutation but have histories of extrapyramidal diseases, suggesting de novo origin of V391G mutation. The Val391Gly...

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Source

Identifiers

PMID: 28131463
DOI: 10.1016/j.neurobiolaging.2016.12.026

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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