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01-11-2011 | Original Communication

Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case

Authors: Paola Piscopo, Giuseppina Talarico, Lorenzo Malvezzi-Campeggi, Alessio Crestini, Roberto Rivabene, Marina Gasparini, Giuseppe Tosto, Nicola Vanacore, Gian Luigi Lenzi, Giuseppe Bruno, Annamaria Confaloni

Published in: Journal of Neurology | Issue 11/2011

Abstract

Mutations in the presenilin 2 (PSEN2) gene are less commonly identified as genetic causes of early-onset familial Alzheimer’s disease than mutations in the amyloid precursor protein (APP) and the presenilin 1 (PSEN1) genes. In fact, only 23 different mutations in the PSEN2 gene have been described in the literature. This paper deals with a sporadic case of a 55 year-old subject bearing an amino acid substitution from arginine to tryptophan at codon 71 of PSEN2 and presenting a peculiar early-onset Alzheimer’s disease phenotype.

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Title: Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case
Authors: Paola Piscopo
Giuseppina Talarico
Lorenzo Malvezzi-Campeggi
Alessio Crestini
Roberto Rivabene
Marina Gasparini
Giuseppe Tosto
Nicola Vanacore
Gian Luigi Lenzi
Giuseppe Bruno
Annamaria Confaloni
Publication date: 01-11-2011
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 11/2011
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-011-6066-1

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Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case

Abstract

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Abstract

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