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.
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case / Paola, Piscopo; Talarico, Giuseppina; Lorenzo Malvezzi, Campeggi; Alessio, Crestini; Roberto, Rivabene; Gasparini, Marina; Tosto, Giuseppe; Nicola, Vanacore; Lenzi, Gian Luigi; Bruno, Giuseppe; Annamaria, Confaloni. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - 258:11(2011), pp. 2043-2047. [10.1007/s00415-011-6066-1]
Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case
TALARICO, GIUSEPPINA;GASPARINI, Marina;TOSTO, GIUSEPPE;LENZI, Gian Luigi;BRUNO, Giuseppe;
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
