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Article

Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.

Neuroscience and biobehavioral reviews - 1 May 2014

Canevelli Marco, Piscopo Paola, Talarico Giuseppina, Vanacore Nicola, Blasimme Alessandro, Crestini Alessio, Tosto Giuseppe, Troili Fernanda, Lenzi Gian Luigi, Confaloni Annamaria, Bruno Giuseppe

Abstract excerpt

Familial Alzheimer's disease (FAD), despite representing a rare condition, is attracting a growing interest in the scientific community. Improved phenotyping of FAD cases may have a relevant impact both in clinical and research contexts. We performed a systematic review of studies describing the phenotypic features of FAD cases sustained by PSEN2 mutations, the less common cause of monogenic AD. Special attention...

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Identifiers

PMID: 24594196
DOI: 10.1016/j.neubiorev.2014.02.010

Genes

PSEN2

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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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