Phenotypical difference of Amyloid Precursor Protein (APP) V717L mutation in Japanese family
Phenotypical difference of Amyloid Precursor Protein (APP) V717L mutation in Japanese family
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DOI：
10.1186/1471-2377-12-38
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发表时间：
2012-06-15
期刊：
影响因子：
2.6
通讯作者：
Ueno, Shu-ichi
中科院分区：
文献类型：
--
作者：
Abe, Masao;Sonobe, Naomi;Ueno, Shu-ichi
背景：阿尔茨海默病（AD）是最常见的痴呆形式。编码淀粉样蛋白前体蛋白（APP）、早老素1和早老素2的基因突变是早发性家族性AD的原因。病例介绍：在本研究中，我们通过遗传筛查报告了一个日本早发性AD家族的APP基因275341 G > C （Val717Leu）突变。这种突变以前在欧洲家庭中发现过。在我们筛选的日本家庭中，AD发病年龄为47.1±3.1岁（n = 9，范围42-52岁）。受影响成员的症状包括精神脆弱和局灶性体征，如锥体体征、癫痫发作和肌阵挛放电。一项磁共振成像研究显示，与临床表现相比，所有受影响成员的双侧海马和大脑皮层发生了相对轻微的萎缩变化。结论：APP基因突变相同，阿尔茨海默病的临床特征也可能不同。需要进一步的临床和遗传学研究来阐明表型和基因型之间的关系。
Background: Alzheimer's disease (AD) is the most common form of dementia. Mutations in genes such as those encoding amyloid precursor protein (APP), presenilin 1 and presenilin 2, are responsible for early-onset familial AD.Case presentation: In this study, we report a 275341 G > C (Val717Leu) mutation in the APP gene in a Japanese family with early onset AD by genetic screening. This mutation has previously been detected in European families. In the Japanese family we screened, the age at onset of AD was 47.1 +/- 3.1 years old (n = 9; range, 42-52). The symptoms in the affected members included psychiatric vulnerability and focal signs such as pyramidal signs, epileptic seizures, and myoclonic discharges. An MR imaging study showed relatively mild atrophic changes in the bilateral hippocampus and cerebral cortices in all affected members compared with their clinical presentations.Conclusion: We conclude that the clinical features of Alzheimer's disease can be different even when caused by the same mutation in the APP gene. Further clinical and genetic studies are required to clarify the relationship between phenotypes and genotypes.