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Article

A presenilin 1 R278I mutation presenting with language impairment.

Neurology - 9 Nov 2004

Godbolt A K, Beck J A, Collinge J, Garrard P, Warren J D, Fox N C, Rossor M N

Abstract excerpt

Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative p...

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Source

Identifiers

PMID: 15534260
DOI: 10.1212/01.wnl.0000143060.98164.1a

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15534260-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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