与早发性阿尔茨海默病的两个意大利家族中早期转移能力和行为改变相关的伦敦 APP 突变（Val717Ile）。
The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease.
机构信息
Department of Neurological Science, Memory Clinic, University Sapienza, Rome, Italy.
出版信息
Dement Geriatr Cogn Disord. 2010;29(6):484-90. doi: 10.1159/000313541. Epub 2010 Jun 3.
BACKGROUND/AIMS: Mutations in the amyloid precursor protein gene were the first to be recognized as a cause of Alzheimer's disease (AD).
METHODS
We describe 2 Italian families showing the missense mutation in exon 17 of the amyloid precursor protein gene on chromosome 21 (Val717Ile), known as London mutation.
RESULTS
In 1 family, this mutation was responsible for AD in 3 out of 7 siblings and it is also present in a fourth sibling who has only shown signs of executive dysfunction so far. Two subjects of the other family with AD diagnosis were carriers of the same mutation.
CONCLUSION
All AD subjects showed a cognitive profile characterized by early impairment in long-term memory, shifting abilities and affective symptoms beginning in the fifth decade of life.
背景/目的：淀粉样前体蛋白基因突变首先被认为是阿尔茨海默病（AD）的病因。
方法
我们描述了 2 个意大利家系，其淀粉样前体蛋白基因 21 号染色体外显子 17 上的错义突变（Val717Ile），即伦敦突变。
结果
在 1 个家系中，该突变导致 7 个兄弟姐妹中的 3 个患有 AD，且该突变也存在于目前仅有执行功能障碍迹象的第 4 个兄弟姐妹中。另一家系的 2 个 AD 诊断患者是该突变的携带者。
结论
所有 AD 患者均表现出认知特征，其特点是长期记忆、转换能力和情感症状在 50 岁之前开始受损。
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