PRESENILE-DEMENTIA AND CEREBRAL-HEMORRHAGE LINKED TO A MUTATION AT CODON-692 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE
PRESENILE-DEMENTIA AND CEREBRAL-HEMORRHAGE LINKED TO A MUTATION AT CODON-692 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE
复制标题
DOI：
10.1038/ng0692-218
复制
发表时间：
1992-06-01
期刊：
影响因子：
30.8
通讯作者：
VAN BROECKHOVEN, C
中科院分区：
文献类型：
--
作者：
HENDRIKS, L;VANDUIJN, CM;VAN BROECKHOVEN, C
已发现几个患有早发性家族性阿尔茨海默氏病的家庭在 21 号染色体上的 β-淀粉样前体蛋白 (APP) 基因的特定密码子 (717) 上存在突变。我们现在报告，APP 基因的同一外显子中存在一种新的碱基突变，该突变在一个患有早老性痴呆和脑出血的家庭中共分离。 淀粉样血管病。该突变导致密码子 692 处的丙氨酸被甘氨酸取代。这些结果表明，临床上不同的实体，即早老性痴呆和脑淀粉样血管病，可能是由 APP 基因中的相同突变引起的。
Several families with an early-onset form of familial Alzheimer's disease have been found to harbour mutations at a specific codon (717) of the gene for the beta-amyloid precursor protein (APP) on chromosome 21. We now report, a novel base mutation in the same exon of the APP gene which co-segregates in one family with presenile dementia and cerebral haemorrhage due to cerebral amyloid angiopathy. The mutation results in the substitution of alanine into glycine at codon 692. These results suggest that the clinically distinct entities, presenile dementia and cerebral amyloid angiopathy, can be caused by the same mutation in the APP gene.