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Title of Journal: J Neurol

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Abbravation: Journal of Neurology

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Springer-Verlag

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DOI

10.1016/0006-3223(96)83994-1

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1432-1459

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Presenilin 2 mutation R71W in an Italian earlyons

Authors: Paola Piscopo Giuseppina Talarico Lorenzo MalvezziCampeggi Alessio Crestini Roberto Rivabene Marina Gasparini Giuseppe Tosto Nicola Vanacore Gian Luigi Lenzi Giuseppe Bruno Annamaria Confaloni
Publish Date: 2011/05/05
Volume: 258, Issue: 11, Pages: 2043-2047
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Abstract

Mutations in the presenilin 2 PSEN2 gene are less commonly identified as genetic causes of earlyonset 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 yearold subject bearing an amino acid substitution from arginine to tryptophan at codon 71 of PSEN2 and presenting a peculiar earlyonset Alzheimer’s disease phenotype

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