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Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.

作者信息

Norton J B, Cairns N J, Chakraverty S, Wang J, Levitch D, Galvin J E, Goate A

机构信息

Alzheimer Disease Research Center and the Departmentof Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.

出版信息

Neurology. 2009 Aug 11;73(6):480-2. doi: 10.1212/WNL.0b013e3181b163ba.

DOI:10.1212/WNL.0b013e3181b163ba
PMID:19667325
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2727146/
Abstract
摘要

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本文引用的文献

1
Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.导致在生命的第四个十年出现阿尔茨海默病的新型早老素1变体（P117A）
Neurosci Lett. 2008 Jun 20;438(2):257-9. doi: 10.1016/j.neulet.2008.04.029. Epub 2008 Apr 15.
2
No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis.早发性阿尔茨海默病中痉挛性截瘫相关基因与痉挛性截瘫无关联。
Neuroreport. 2007 Aug 6;18(12):1267-9. doi: 10.1097/WNR.0b013e3282405209.
3
C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.正常活性位点构象所需的早老素和早老素同源物的C末端PAL基序。
J Neurochem. 2006 Jan;96(1):218-27. doi: 10.1111/j.1471-4159.2005.03548.x. Epub 2005 Nov 23.
4
Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.早老素-1突变L271V导致外显子8剪接改变，并引发伴有非核心斑块且无神经原纤维缠结的阿尔茨海默病。
J Biol Chem. 2003 Feb 28;278(9):6748-54. doi: 10.1074/jbc.M211827200. Epub 2002 Dec 19.
5
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.日本一个家族中早老素1基因（PSEN1）的一种新型突变（G217D）：早老性痴呆和帕金森综合征与皮质和纹状体中的棉絮状斑块有关。
Acta Neuropathol. 2002 Aug;104(2):155-70. doi: 10.1007/s00401-002-0536-6. Epub 2002 Apr 19.
6
Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques.由于早老素-1基因第9外显子缺失导致的阿尔茨海默病病例表现出一种不寻常但具有特征性的β-淀粉样蛋白病理学特征，即“棉絮状”斑块。
Neuropathol Appl Neurobiol. 2001 Jun;27(3):189-96. doi: 10.1046/j.1365-2990.2001.00316.x.
7
Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. The National Institute on Aging, and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's Disease.阿尔茨海默病尸检诊断的共识性建议。美国国立衰老研究所及里根研究所阿尔茨海默病神经病理学评估诊断标准工作组。
Neurobiol Aging. 1997 Jul-Aug;18(4 Suppl):S1-2.