A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years
A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years
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DOI：
10.1097/00001756-199607080-00009
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发表时间：
1996-07-08
期刊：
影响因子：
1.7
通讯作者：
Frebourg, T
中科院分区：
文献类型：
--
作者：
Campion, D;Brice, A;Frebourg, T
我们发现了一个新的阿尔茨海默氏病家族，其中受影响的受试者发病年龄非常小（范围为 29-35 岁）。一名患者的诊断得到了神经病理学证实。分子分析表明，在该家族中，该疾病是由早老素 1 (PS-1) 基因的密码子 235 处的错义突变引起的。两名患者在痴呆症发病前几年就曾出现全身性强直阵挛性癫痫发作。这种特殊的临床特征是否是 PS-I 突变的结果仍有待确定。据我们所知，Leu235Pro 突变是与 AD 发病最年轻年龄相关的 PS-I 突变，这表明它对 PS-1 功能有巨大影响。
WE have identified a novel Alzheimer's disease family in which affected subjects had a very young age of onset (range 29-35 years). Neuropathological confirmation of the diagnosis was obtained for one patient. Molecular analysis shows that within this family the disease results from a missense mutation at codon 235 of the presenilin 1 (PS-1) gene. Two patients had exhibited generalized tonico-clonic seizures several years before the onset of dementia. Whether this particular clinical feature is a consequence of the PS-I mutation remains to be established. The Leu235Pro mutation is, to our knowledge, the PS-I mutation associated with the youngest age of AD onset, which suggests that it has a drastic effect on PS-1 function.