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Article

A second pedigree with amyloid-less familial Alzheimer's disease harboring an identical mutation in the amyloid precursor protein gene (E693delta).

Internal medicine (Tokyo, Japan) - 1 Jan 2015

Kutoku Yumiko, Ohsawa Yutaka, Kuwano Ryozo, Ikeuchi Takeshi, Inoue Haruhisa, Ataka Suzuka, Shimada Hiroyuki, Mori Hiroshi, Sunada Yoshihide

Abstract excerpt

A 59-year-old woman developed early-onset, slowly progressive dementia and spastic paraplegia. positron emission tomography (PET) imaging revealed a large reduction in the level of glucose uptake without amyloid deposition in the cerebral cortex. We identified a homozygous microdeletion within the amyloid β (Aβ) coding sequence in the amyloid precursor protein (APP) gene (c.2080_2082delGAA, p.E693del) in three...

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Identifiers

PMID: 25743013
DOI: 10.2169/internalmedicine.54.3021

Genes

APP

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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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