阿尔茨海默病及帕金森病相关基因突变位点的研究进展

被引：5

作者：

张跃其 ^{[1
]}

张强 ^{[2
]}

王丽凤 ^{[1
]}

吴燕丹 ^{[2
]}

王培昌 ^{[1
]}

机构：

[1] 北京, 首都医科大学宣武医院检验科

[2] 北京顺义区医院检验科

来源：

中华检验医学杂志 | 2016年 / 39卷 / 07期

关键词：

阿尔茨海默病; 帕金森病; 神经变性疾病;

D O I：

暂无

中图分类号：

R749.16 []; R742.5 [震颤麻痹综合征];

学科分类号：

100204 [神经病学];

摘要：

医学技术的迅速发展使得精准医学的概念应运而生, 对基因遗传变异疾病的准确分析有利于疾病精准预测、精准诊断及靶向治疗。阿尔茨海默病及帕金森病是两种最常见的神经退行性疾病。(中华检验医学杂志, 2016, 39:540-543)

引用

共 32 条

[1]

常染色体隐性遗传性早发型帕金森综合征DJ1基因突变研究 [J].

郭纪锋 ;

唐北沙 ;

张玉虎 ;

夏昆 ;

蔡芳 ;

潘乾 ;

沈璐 ;

江泓 ;

赵国华 ;

严新翔 ;

曹立 .

中华医学遗传学杂志, 2005, (06) :641-643

[2]

Dual task performance: a comparison between healthy elderly individuals and those with Parkinson’s disease.[J]..Fisioterapia em Movimento.2015, 2

[3]

Identifying the Association Between Alzheimer's Disease and Parkinson's Disease Using Genome-Wide Association Studies and Protein-Protein Interaction Network [J].

Liu, Guiyou ;

Bao, Xinjie ;

Jiang, Yongshuai ;

Liao, Mingzhi ;

Jiang, Qinghua ;

Feng, Rennan ;

Zhang, Liangcai ;

Ma, Guoda ;

Chen, Zugen ;

Wang, Guangyu ;

Wang, Renzhi ;

Zhao, Bin ;

Li, Keshen .

MOLECULAR NEUROBIOLOGY, 2015, 52 (03) :1629-1636

[4]

A novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family [J].

Niu, Fusheng ;

Yu, Shanshan ;

Zhang, Zhenxin ;

Yi, Xin ;

Ye, Lili ;

Tang, Wei ;

Qiu, Changchun ;

Wen, Hongbo ;

Sun, Yujing ;

Gao, Jing ;

Guo, Yupu .

NEUROBIOLOGY OF AGING, 2014, 35 (10) :2420.e1-2420.e5

[5]

Role of genomics in translational research for Parkinson's disease [J].

Sekiyama, Kazunari ;

Takamatsu, Yoshiki ;

Waragai, Masaaki ;

Hashimoto, Makoto .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2014, 452 (02) :226-235

[6]

Genetic variants and animal models in SNCA and Parkinson disease.[J].Hao Deng;Lamei Yuan.Ageing Research Reviews.2014,

[7]

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease [J].

Sassi, Celeste ;

Guerreiro, Rita ;

Gibbs, Raphael ;

Ding, Jinhui ;

Lupton, Michelle K. ;

Troakes, Claire ;

Lunnon, Katie ;

Al-Sarraj, Safa ;

Brown, Kristelle S. ;

Medway, Chirstopher ;

Lord, Jenny ;

Turton, James ;

Mann, David ;

Snowden, Julie ;

Neary, David ;

Harris, Jeniffer ;

Bras, Jose ;

Morgan, Kevin ;

Powell, John F. ;

Singleton, Andrew ;

Hardy, John .

NEUROBIOLOGY OF AGING, 2014, 35 (10) :2422.e13-2422.e16

[8]

Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing [J].

Yagi, Ryoichi ;

Miyamoto, Ryosuke ;

Morino, Hiroyuki ;

Izumi, Yuishin ;

Kuramochi, Masahito ;

Kurashige, Takashi ;

Maruyama, Hirofumi ;

Mizuno, Noriyoshi ;

Kurihara, Hidemi ;

Kawakami, Hideshi .

NEUROBIOLOGY OF AGING, 2014, 35 (07) :1780.e1-1780.e5

[9]

Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations [J].

Puschmann, Andreas .

PARKINSONISM & RELATED DISORDERS, 2013, 19 (04) :407-415

[10]

Deciphering the mechanism underlying late-onset Alzheimer disease [J].

Krstic, Dimitrije ;

Knuesel, Irene .

NATURE REVIEWS NEUROLOGY, 2013, 9 (01) :25-34

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