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Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation.

作者信息

Lannfelt L, Axelman K, Lilius L, Basun H

出版信息

Am J Hum Genet. 1995 Jan;56(1):332-5.

PMID:7825596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801312/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aaa1/1801312/085dd91e7df2/ajhg00027-0341-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aaa1/1801312/085dd91e7df2/ajhg00027-0341-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aaa1/1801312/085dd91e7df2/ajhg00027-0341-a.jpg

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Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation.瑞典一个患有淀粉样前体蛋白突变的阿尔茨海默病家族的遗传咨询。
Am J Hum Genet. 1995 Jan;56(1):332-5.
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Prion protein codon 129 polymorphism and risk of Alzheimer disease.朊病毒蛋白密码子129多态性与阿尔茨海默病风险
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High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.通过对四个不同基因进行序列分析，在早发性痴呆患者中检测到高致病性突变发生率。
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Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.神经退行性疾病的预测性遗传咨询：过去、现在和未来。
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本文引用的文献

1
Low frequency of the APP 670/671 mutation in familial Alzheimer's disease in Sweden.瑞典家族性阿尔茨海默病中APP 670/671突变的低频率
Neurosci Lett. 1993 Apr 16;153(1):85-7. doi: 10.1016/0304-3940(93)90083-w.
2
Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.载脂蛋白E：与β-淀粉样蛋白的高亲和力结合及晚发性家族性阿尔茨海默病中4型等位基因频率增加
Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1977-81. doi: 10.1073/pnas.90.5.1977.
3
Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patients.
一例经尸检确诊的早发性阿尔茨海默病患者自杀身亡。
Neurodegener Dis Manag. 2018 Apr;8(2):81-88. doi: 10.2217/nmt-2017-0045. Epub 2018 Jan 10.
4
Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics.早发性阿尔茨海默病中携带APP突变的症状前基因检测：同胞关系动态的描述性研究
J Genet Couns. 2000 Aug;9(4):327-41. doi: 10.1023/A:1009406229745.
5
A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.预测性检测和早期识别神经退行性疾病后的生活质量评估综述。
Prog Neurobiol. 2013 Nov;110:2-28. doi: 10.1016/j.pneurobio.2013.08.003. Epub 2013 Sep 11.
6
Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.阿尔茨海默病的遗传咨询和检测：美国医学遗传学学院和全国遗传咨询师协会的联合实践指南。
Genet Med. 2011 Jun;13(6):597-605. doi: 10.1097/GIM.0b013e31821d69b8.
7
Emotional reactions to predictive testing in Alzheimer's disease and other inherited dementias.对阿尔茨海默病及其他遗传性痴呆症预测性检测的情绪反应。
Am J Alzheimers Dis Other Demen. 2005 Jul-Aug;20(4):233-8. doi: 10.1177/153331750502000408.
8
Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease.遗传学与遗传咨询：阿尔茨海默病、额颞叶痴呆和克雅氏病的建议
Curr Neurol Neurosci Rep. 2004 Sep;4(5):351-7. doi: 10.1007/s11910-004-0081-x.
9
Clinical rationale of genetic testing in dementia.痴呆症基因检测的临床依据。
J Neurol Neurosurg Psychiatry. 1997 Mar;62(3):217-21. doi: 10.1136/jnnp.62.3.217.
10
Preparing for presymptomatic DNA testing for early onset Alzheimer's disease/cerebral haemorrhage and hereditary Pick disease.为早发性阿尔茨海默病/脑出血和遗传性皮克病的症状前DNA检测做准备。
J Med Genet. 1997 Jan;34(1):63-72. doi: 10.1136/jmg.34.1.63.
对β-淀粉样前体蛋白基因的第16和17外显子进行测序，未能在瑞典阿尔茨海默病患者中鉴定出新的突变。
Hum Mol Genet. 1993 Jul;2(7):1045-6. doi: 10.1093/hmg/2.7.1045.
4
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.载脂蛋白E4等位基因的基因剂量与晚发型家族性阿尔茨海默病的风险
Science. 1993 Aug 13;261(5123):921-3. doi: 10.1126/science.8346443.
5
Lack of association between apolipoprotein E allele epsilon 4 and sporadic Alzheimer's disease.
Neurosci Lett. 1994 Mar 14;169(1-2):175-8. doi: 10.1016/0304-3940(94)90384-0.
6
Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.淀粉样前体蛋白突变在一个瑞典家族中引发了阿尔茨海默病。
Neurosci Lett. 1994 Feb 28;168(1-2):254-6. doi: 10.1016/0304-3940(94)90463-4.
7
Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.阿尔茨海默病的临床诊断：美国国立神经疾病与中风研究所-阿尔茨海默病及相关疾病协会工作组在卫生与公众服务部阿尔茨海默病特别工作组主持下的报告。
Neurology. 1984 Jul;34(7):939-44. doi: 10.1212/wnl.34.7.939.
8
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.基因连锁研究表明，阿尔茨海默病并非单一的同质疾病。
Nature. 1990 Sep 13;347(6289):194-7. doi: 10.1038/347194a0.
9
Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.由β-淀粉样前体蛋白基因第717密码子突变引起的早发性阿尔茨海默病。
Nature. 1991 Oct 31;353(6347):844-6. doi: 10.1038/353844a0.
10
A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.与遗传性阿尔茨海默病相关的淀粉样前体蛋白中的一种突变。
Science. 1991 Oct 4;254(5028):97-9. doi: 10.1126/science.1925564.