Tanahashi H, Kawakatsu S, Kaneko M, Yamanaka H, Takahashi K, Tabira T
Division of Demyelinating Disease and Aging, National Institute of Neuroscience, NCNP, Tokyo, Japan.
Neurosci Lett. 1996 Nov 1;218(2):139-41. doi: 10.1016/s0304-3940(96)13138-4.
The mutations of presenilins (PSs) gene and their clinicopathological correlations to Alzheimer's disease (AD) have lately attracted considerable attention. In this report we analyzed fifteen Japanese familial Alzheimer's disease (FAD) including 12 early-onset FAD and 13 sporadic AD patients for the mutation of PS-1 gene by direct sequence analysis. We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. Families in which we failed to find the mutation by this screening may have mutations elsewhere in PSs or in APP gene, or yet unidentified other AD loci may exist. This is the first report to find a sporadic AD patient having PS-1 mutation.
早老素（PSs）基因突变及其与阿尔茨海默病（AD）的临床病理相关性近来备受关注。在本报告中，我们通过直接序列分析，对15例日本家族性阿尔茨海默病（FAD）患者（包括12例早发型FAD和13例散发性AD患者）进行了PS-1基因突变分析。我们在2例FAD患者中发现了G384A、E280A突变，在1例散发性AD患者中发现了H163R突变，在PS-2基因中未发现N1411或M239V突变，在淀粉样前体蛋白（APP）基因的第16和17外显子中也未发现突变。通过此次筛查未发现突变的家族，其PSs基因或APP基因的其他位置可能存在突变，或者可能存在尚未确定的其他AD基因座。这是首次发现散发性AD患者存在PS-1突变的报告。
