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Article

A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.

Neuroreport - 8 Jul 1996

Campion D, Brice A, Dumanchin C, Puel M, Baulac M, De La Sayette V, Hannequin D, Duyckaerts C, Michon A, Martin C, Moreau V, Penet C, Martinez M, Clerget-Darpoux F, Agid Y, Frebourg T

Abstract excerpt

We have identified a novel Alzheimer's disease family in which affected subjects had a very young age of onset (range 29-35 years). Neuropathological confirmation of the diagnosis was obtained for one patient. Molecular analysis shows that within this family the disease results from a missense mutation at codon 235 of the presenilin 1 (PS-1) gene. Two patients had exhibited generalized tonico-clonic seizures...

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Identifiers

PMID: 8904759
DOI: 10.1097/00001756-199607080-00009

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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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A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.PMID 8904759Read ↗

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