Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer’s disease case
作者： Paola Piscopo , Giuseppina Talarico , Lorenzo Malvezzi-Campeggi , Alessio Crestini , Roberto Rivabene
DOI: 10.1007/S00415-011-6066-1
关键词:
摘要: Mutations in the presenilin 2 (PSEN2) gene are less commonly identified as genetic causes of early-onset familial Alzheimer's disease than mutations amyloid precursor protein (APP) and 1 (PSEN1) genes. In fact, only 23 different PSEN2 have been described literature. This paper deals with a sporadic case 55 year-old subject bearing an amino acid substitution from arginine to tryptophan at codon 71 presenting peculiar phenotype.
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