一个新的早发性阿尔茨海默病的早老素 1 突变（Ser169del）在一个中国家族中。
A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease.
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China.
出版信息
Neurosci Lett. 2010 Jan 1;468(1):34-7. doi: 10.1016/j.neulet.2009.10.055. Epub 2009 Oct 22.
Early-onset familial Alzheimer's disease (EOFAD) has been associated with mutations in three genes, of which presenilin 1 (PSEN1) mutations are the most frequent. Here we report a novel PSEN1 mutation in a Chinese family with autosomal dominant Alzheimer's disease with an onset age in the early 40s. Molecular genetic analysis showed a 507-509delATC mutation at codon 169, leading to the deletion of serine in residue 169 (Ser169del). The amnestic presentation and absence of other features contrast with the other two mutations at codon 169 which have been associated with myoclonic jerks and seizures.
早发性家族性阿尔茨海默病（EOFAD）与三个基因突变有关，其中早老素 1（PSEN1）基因突变最为常见。本文报道了一个中国早发性家族性阿尔茨海默病家系，其致病基因 PSEN1 发生了一个新的突变，该家系患者的发病年龄在 40 岁出头。分子遗传学分析发现，该家系患者在 PSEN1 第 169 密码子发生了 507-509delATC 突变，导致 169 位丝氨酸缺失（Ser169del）。该家系患者以遗忘为主要表现，无其他特征，与另外两个位于第 169 密码子的突变不同，后两者与肌阵挛和癫痫有关。
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