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Article

Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.

Journal of Alzheimer's disease : JAD - 1 Jan 2012

Sepulveda-Falla Diego, Glatzel Markus, Lopera Francisco

Abstract excerpt

Presenilin 1 (PS1) mutations are the most common cause of early-onset familial Alzheimer's disease (EOFAD). They show a common phenotypic profile characterized by early age of onset, severe dementia and distinct neurodegeneration. The largest population of EOFAD carries the E280A mutation in PS1 and resides in Antioquia, Colombia, currently comprising around 5,000 individuals. Carriers start showing memory...

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PMID: 22766738
DOI: 10.3233/JAD-2012-120907

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Source receipt: pubmed, retrieved 7 Sept 2026.

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