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Article

Molecular evidence of presenilin 1 mutation in familial early onset dementia.

American journal of medical genetics - 8 Apr 2002

Matsubara-Tsutsui Miho, Yasuda Minoru, Yamagata Hidehisa, Nomura Takuo, Taguchi Keiko, Kohara Katsuhiko, Miyoshi Koho, Miki Tetsuro

Abstract excerpt

Early onset familial Alzheimer disease (FAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. We reported previously a variant form of FAD, due to deletion of exon 9 of PSEN1, with spastic paralysis and rigidity. We describe a novel PSEN1 mutation in a family of Japanese origin with six affected individuals of both genders in two generations. The...

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Source

Identifiers

PMID: 11920851
DOI: 10.1002/ajmg.10250

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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