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Article

Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer's disease: clinical characteristics and genetic identification.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2010

Kim Hee-Jin, Kim Hyun Young, Ki Chang-Seok, Kim Seung Hyun

Abstract excerpt

Mutations in the presenilin 1 (PSEN1) gene are more commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations in the amyloid precursor protein (APP) and the presenilin 2 (PSEN2) genes. More than 100 different mutations in the PSEN1 gene have been detected, and the clinical phenotypes have been described in the literature. This paper reports the case of a 38-year-old female...

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Source

Identifiers

PMID: 20213228
DOI: 10.1007/s10072-010-0233-5

Genes

PSEN1
APP
PSEN2

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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