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Article

Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs.

American journal of Alzheimer's disease and other dementias - 1 Jan 2000

Dintchov Traykov Latchezar, Mehrabian Shima, Van den Broeck Marleen, Radoslavova Raycheva Margarita, Cruts Marc, Kirilova Jordanova Albena, Van Broeckhoven Christine

Abstract excerpt

We describe the phenotype of a Bulgarian early-onset Alzheimer's disease (EOAD) family with 3 affected patients in 3 generations. In the proband, a novel L381V mutation in the presenilin1 (PSEN1) gene was identified. In this patient, the first symptoms were noticed at the age of 32 years and she...

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Source

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Identifiers

PMID: 19797784
DOI: 10.1177/1533317509341464
PMCID: PMC10846061

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19797784-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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