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Article

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis.

Neuroscience letters - 30 Sept 2004

Hattori Sayoko, Sakuma Kenji, Wakutani Yosuke, Wada Kenji, Shimoda Masaru, Urakami Katsuya, Kowa Hisanori, Nakashima Kenji

Abstract excerpt

Early onset familial Alzheimer's disease with spastic paraparesis (FAD-SP) has been associated with mutations of the presenilin 1 gene (PSEN1). We report a pedigree of FAD-SP due to a novel missense mutation of PSEN1 (Y154N). The symptoms of the proband were characterized by presenile dementia in her 40s, preceded by spastic paraparesis in her 30s, whereas the mother of the proband presented with spastic...

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Source

Identifiers

PMID: 15364419
DOI: 10.1016/j.neulet.2004.07.057

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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