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Article

Presenilin 1 Glu318Gly polymorphism: interpret with caution.

Archives of neurology - 1 Oct 2005

Goldman Jill S, Johnson Julene K, McElligott Karen, Suchowersky Oksana, Miller Bruce L, Van Deerlin Vivianna M

Abstract excerpt

BACKGROUND: The significance of the presenilin 1 (PSEN1) Glu318Gly polymorphism has been described as either a causal mutation with reduced penetrance or a benign polymorphism. When this polymorphism is found in a symptomatic person with a family history of dementia, counseling on recurrence risk becomes very problematic. OBJECTIVE: To demonstrate that the PSEN1 Glu318Gly polymorphism should be interpreted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16216949
DOI: 10.1001/archneur.62.10.1624

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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