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Article

Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene.

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Apr 2013

Niwa Atsushi, Matsuo Ko, Shindo Akihiro, Yata Kenichiro, Shiraishi Taizo, Tomimoto Hidekazu

Abstract excerpt

Over 100 mutations have been described in the presenilin-1 gene (PSEN1), resulting in familial Alzheimer disease (AD). However, of the limited number of autopsy cases, only one has been reported from an AD family with an L420R PSEN1 mutation. We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R). A 43-year-old Japanese woman...

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Source

Identifiers

PMID: 22882713
DOI: 10.1111/j.1440-1789.2012.01340.x

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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