A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease

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• 作者：Jifeng Guo ; Jiaohua Wei ; Shusheng Liao ; Lei Wang ; Hong Jiang ; Beisha Tang
• 关键词：Familial Alzheimer's disease ; Early-onset ; Presenilin 1 ; Mutation
• 刊名：Neuroscience Letters
• 出版年：2010
• 出版时间：1 January 2010
• 年：2010
• 卷：468
• 期：1
• 页码：34-37
• 全文大小：627 K

文摘

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.