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Article

Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.

BMC neurology - 20 May 2016

An Seong Soo A, Bagyinszky Eva, Kim Hye Ryoun, Seok Ju-Won, Shin Hae-Won, Bae SeunOh, Kim SangYun, Youn Young Chul

Abstract excerpt

BACKGROUND: Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation. CASE REPORT: A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clinically diagnosed as familial Alzheimer's disease due to a PSEN1 mutation. One of two daughters also has the same...

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Source

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Identifiers

PMID: 27206484
DOI: 10.1186/s12883-016-0591-6
PMCID: PMC4875656

Genes

PSEN1
APP
PSEN2

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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