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Article

Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease.

Neuroscience letters - 7 Jun 2013

Tiedt H O, Lueschow A, Winter P, Müller U

Abstract excerpt

We report on a previously not recognized mutation in exon 6 of presenilin-1 (PSEN1) (c.520_522delCTG) in a male patient with early onset familial Alzheimer disease. The mutation results in the deletion of a leucine at amino acid position 174 of the protein. The index patient presented with progressive memory loss at 50 years of age. Initially, depression was the only ancillary symptom. At age 53 clinical...

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Source

Identifiers

PMID: 23583593
DOI: 10.1016/j.neulet.2013.03.056

Genes

PSEN1

Variants

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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