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Article

A mutant PSEN1 causes dementia with Lewy bodies and variant Alzheimer's disease.

Annals of neurology - 1 Mar 2005

Ishikawa Atsushi, Piao Yue-Shan, Miyashita Akinori, Kuwano Ryozo, Onodera Osamu, Ohtake Hiroaki, Suzuki Masahiro, Nishizawa Masatoyo, Takahashi Hitoshi

Abstract excerpt

We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques, corticospinal tract degeneration, cerebral amyloid angiopathy, and a novel three-base pair...

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Source

Identifiers

PMID: 15732120
DOI: 10.1002/ana.20393

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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