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Article

Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.

Neurobiology of aging - 1 Aug 2017

Park Jiyun, An Seong Soo A, Giau Vo Van, Shim Kyuhwan, Youn Young Chul, Bagyinszky Eva, Kim SangYun

Abstract excerpt

In the present study, a novel mutation in exon 7 of presenilin 1 (Leu232Pro) was discovered in a Korean patient with early-onset Alzheimer's disease, who represented memory decline at 37 years of age, followed by impairment in spatial activity and concentrations and personality changes. Imaging analyses with magnetic resonance scan showed diffuse atrophy in the frontoparietal regions. Targeted next generation...

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Source

Identifiers

PMID: 28532645
DOI: 10.1016/j.neurobiolaging.2017.04.012

Genes

PSEN1

Variants

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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