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家族性阿尔茨海默病:突变位点影响临床表型。

Familial Alzheimer's disease: site of mutation influences clinical phenotype.

作者信息

Lippa C F, Swearer J M, Kane K J, Nochlin D, Bird T D, Ghetti B, Nee L E, St George-Hyslop P, Pollen D A, Drachman D A

机构信息

Department of Neurology, Medical College of Pennsylvania-Hahnemann University, Philadelphia, PA, USA.

出版信息

Ann Neurol. 2000 Sep;48(3):376-9.

PMID:10976645
Abstract

Alzheimer's disease (AD) is caused by multiple genetic and/or environmental etiologies. Because differences in the genetically determined pathogenesis may cause differences in the phenotype, we examined age at onset and age at death in 90 subjects with dominantly inherited AD due to different mutations (amyloid precursor protein, presenilin-1, and presenilin-2 genes). We found that among patients with dominantly inherited AD, genetic factors influence both age at onset and age at death.

摘要

阿尔茨海默病(AD)由多种遗传和/或环境病因引起。由于基因决定的发病机制差异可能导致表型差异,我们研究了90名因不同突变(淀粉样前体蛋白、早老素-1和早老素-2基因)而患有显性遗传AD的受试者的发病年龄和死亡年龄。我们发现,在患有显性遗传AD的患者中,遗传因素会影响发病年龄和死亡年龄。

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1
Familial Alzheimer's disease: site of mutation influences clinical phenotype.家族性阿尔茨海默病:突变位点影响临床表型。
Ann Neurol. 2000 Sep;48(3):376-9.
2
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Molecular genetics of Alzheimer's disease.阿尔茨海默病的分子遗传学
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The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.早老素-1基因的Glu318Gly突变不一定会导致阿尔茨海默病。
Ann Neurol. 1998 Dec;44(6):965-7. doi: 10.1002/ana.410440617.
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Eur J Hum Genet. 1998 Mar-Apr;6(2):176-80. doi: 10.1038/sj.ejhg.5200160.

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γ-Secretase activity, clinical features, and biomarkers of autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analysis of the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).γ-分泌酶活性、临床特征和常染色体显性阿尔茨海默病的生物标志物:显性遗传性阿尔茨海默病网络观察研究(DIAN-OBS)的横断面和纵向分析。
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The PSEN1 E280G mutation leads to increased amyloid-β43 production in induced pluripotent stem cell neurons and deposition in brain tissue.早老素1基因E280G突变导致诱导多能干细胞神经元中β淀粉样蛋白43生成增加,并在脑组织中沉积。
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Early pathogenic event of Alzheimer's disease documented in iPSCs from patients with PSEN1 mutations.早发性阿尔茨海默病的致病事件在携带PSEN1突变患者的诱导多能干细胞中得到证实。
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