Erschienen in:
01.11.2011 | Original Communication
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case
verfasst von:
Paola Piscopo, Giuseppina Talarico, Lorenzo Malvezzi-Campeggi, Alessio Crestini, Roberto Rivabene, Marina Gasparini, Giuseppe Tosto, Nicola Vanacore, Gian Luigi Lenzi, Giuseppe Bruno, Annamaria Confaloni
Erschienen in:
Journal of Neurology
|
Ausgabe 11/2011
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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.