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Article

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Human mutation - 1 Oct 2006

Dumanchin Cecile, Tournier Isabelle, Martin Cosette, Didic Mira, Belliard Serge, Carlander Bertrand, Rouhart François, Duyckaerts Charles, Pellissier Jean-François, Latouche Jean Baptiste, Hannequin Didier, Frebourg Thierry, Tosi Mario, Campion Dominique

Abstract excerpt

We describe the biological consequences on PSEN1 exons 8 or 9 splicing and Abeta peptides production of four PSEN1 mutations associated with a phenotypic variant of Alzheimer disease, which includes cotton wool plaques and spastic paraparesis (CWP/SP). Two of these mutations (c.869-22_869-23ins18 and c.871A > C, p.T291P) are novel mutations located in intron 8 and exon 9, respectively. The c.869-22_869-23ins18...

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Source

Identifiers

PMID: 16941492
DOI: 10.1002/humu.9458

Genes

PSEN1

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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