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 was given to the clinical manifestations as well as to the main findings coming from the most commonly and widely adopted diagnostic procedures. Basing on the collected data, we also attempted to conduct a genotype phenotype correlation analysis. Overall, the mutations involving the PSEN2 gene represent an extremely rare cause of FAD, having been reported to date in less than 200 cases. They are mainly associated, despite some peculiar and heterogeneous features, to a typical AD phenotype. Nevertheless, the frequent occurrence of psychotic symptoms may represent a potential distinctive element. The scarcity of available phenotypic descriptions strongly limits the implementation of genotype phenotype correlations. (c) 2014 Elsevier Ltd. All rights reserved.

Familial Alzheimer's disease sustained by presenilin 2 mutations: Systematic review of literature and genotype-phenotype correlation / Canevelli, Marco; Paola, Piscopo; Talarico, Giuseppina; Vanacore, Nicola; Alessandro, Blasimme; Alessio, Crestini; Tosto, Giuseppe; Troili, Fernanda; Lenzi, Gian Luigi; Annamaria, Confaloni; Bruno, Giuseppe. - In: NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS. - ISSN 0149-7634. - 42:(2014), pp. 170-179. [10.1016/j.neubiorev.2014.02.010]

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

CANEVELLI, MARCO;TALARICO, GIUSEPPINA;VANACORE, NICOLA;TOSTO, GIUSEPPE;Fernanda Troili;LENZI, Gian Luigi;BRUNO, Giuseppe
2014

Abstract

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 was given to the clinical manifestations as well as to the main findings coming from the most commonly and widely adopted diagnostic procedures. Basing on the collected data, we also attempted to conduct a genotype phenotype correlation analysis. Overall, the mutations involving the PSEN2 gene represent an extremely rare cause of FAD, having been reported to date in less than 200 cases. They are mainly associated, despite some peculiar and heterogeneous features, to a typical AD phenotype. Nevertheless, the frequent occurrence of psychotic symptoms may represent a potential distinctive element. The scarcity of available phenotypic descriptions strongly limits the implementation of genotype phenotype correlations. (c) 2014 Elsevier Ltd. All rights reserved.
2014
presenilin 2; familial alzheimer's disease; alzheimer's disease; phenotyping; genetics of dementia; genotype-phenotype correlation
01 Pubblicazione su rivista::01a Articolo in rivista
Familial Alzheimer's disease sustained by presenilin 2 mutations: Systematic review of literature and genotype-phenotype correlation / Canevelli, Marco; Paola, Piscopo; Talarico, Giuseppina; Vanacore, Nicola; Alessandro, Blasimme; Alessio, Crestini; Tosto, Giuseppe; Troili, Fernanda; Lenzi, Gian Luigi; Annamaria, Confaloni; Bruno, Giuseppe. - In: NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS. - ISSN 0149-7634. - 42:(2014), pp. 170-179. [10.1016/j.neubiorev.2014.02.010]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/561069
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 16
  • Scopus 37
  • ???jsp.display-item.citation.isi??? 33
social impact