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Article

Regional brain volume differences in symptomatic and presymptomatic carriers of familial Alzheimer's disease mutations.

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2013

Lee Grace J, Lu Po H, Medina Luis D, Rodriguez-Agudelo Yaneth, Melchor Stephanie, Coppola Giovanni, Braskie Meredith N, Hua Xue, Apostolova Liana G, Leow Alex D, Thompson Paul M, Ringman John M

Abstract excerpt

BACKGROUND: Mutations in the presenilin (PSEN1, PSEN2) and amyloid precursor protein (APP) genes cause familial Alzheimer's disease (FAD) in a nearly fully penetrant, autosomal dominant manner, providing a unique opportunity to study presymptomatic individuals who can be predicted to develop Alzheimer's disease (AD) with essentially 100% certainty. Using tensor-based morphometry (TBM), we examined brain volume...

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Source

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Identifiers

PMID: 23085935
DOI: 10.1136/jnnp-2011-302087
PMCID: PMC3779052

Genes

APP
PSEN1
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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