Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Rome, Italy.
J Neurol. 2011 Nov;258(11):2043-7. doi: 10.1007/s00415-011-6066-1. Epub 2011 May 5.
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.
早发性家族性阿尔茨海默病的遗传病因中，早老素 2 （PSEN2）基因突变比淀粉样前体蛋白（APP）和早老素 1 （PSEN1）基因突变少见。实际上，文献中仅描述了 PSEN2 基因中的 23 种不同突变。本文报道了一例散发性病例，患者 55 岁，PSEN2 密码子 71 从精氨酸突变为色氨酸，表现出独特的早发性阿尔茨海默病表型。
