LRRK2 单倍型与帕金森病发病年龄的关联。
Association of LRRK2 Haplotype With Age at Onset in Parkinson Disease.
机构信息
National Neuroscience Institute, Singapore.
Centre for Quantitative Medicine, Duke-National University of Singapore Medical School, Singapore.
出版信息
JAMA Neurol. 2018 Jan 1;75(1):127-128. doi: 10.1001/jamaneurol.2017.3363.
Abstract
This study examines the effect of risk variants on the age at onset of Parkinson disease.
摘要
本研究考察了风险变异对帕金森病发病年龄的影响。
相似文献
1
Association of LRRK2 Haplotype With Age at Onset in Parkinson Disease.LRRK2 单倍型与帕金森病发病年龄的关联。
JAMA Neurol. 2018 Jan 1;75(1):127-128. doi: 10.1001/jamaneurol.2017.3363.
2
LRRK2 and the new era of Parkinson's disease research.亮氨酸重复激酶2与帕金森病研究的新时代。
Lancet Neurol. 2016 Nov;15(12):1195. doi: 10.1016/S1474-4422(16)30077-1. Epub 2016 Oct 11.
3
Frequency of LRRK2 mutations in early- and late-onset Parkinson disease.早发型和晚发型帕金森病中LRRK2突变的频率
Neurology. 2006 Nov 28;67(10):1786-91. doi: 10.1212/01.wnl.0000244345.49809.36. Epub 2006 Oct 18.
4
α-synuclein (SNCA) but not dynamin 3 (DNM3) influences age at onset of leucine-rich repeat kinase 2 (LRRK2) Parkinson's disease in Spain.α-突触核蛋白（SNCA）而非动力蛋白 3（DNM3）影响西班牙富亮氨酸重复激酶 2（LRRK2）帕金森病的发病年龄。
Mov Disord. 2018 Apr;33(4):637-641. doi: 10.1002/mds.27295. Epub 2018 Feb 23.
5
LRRK2 gene in Parkinson disease: mutation analysis and case control association study.帕金森病中的LRRK2基因：突变分析与病例对照关联研究
Neurology. 2005 Sep 13;65(5):696-700. doi: 10.1212/01.wnl.0000167552.79769.b3.
6
Neuromelanin magnetic resonance imaging of the substantia nigra in LRRK2-related Parkinson's disease.富亮氨酸重复激酶2相关帕金森病中黑质神经黑色素的磁共振成像
Mov Disord. 2017 Sep;32(9):1331-1333. doi: 10.1002/mds.27083. Epub 2017 Jul 7.
7
Pathophysiological heterogeneity in Parkinson's disease: Neurophysiological insights from LRRK2 mutations.帕金森病的病理生理异质性：来自LRRK2突变的神经生理学见解
Mov Disord. 2017 Sep;32(9):1333-1335. doi: 10.1002/mds.27091. Epub 2017 Jul 7.
8
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestry.LRRK2 p.G2019S 突变在非犹太裔个体中的外显率估计。
Mov Disord. 2017 Oct;32(10):1432-1438. doi: 10.1002/mds.27059. Epub 2017 Jun 22.
9
Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.富含亮氨酸重复激酶2（LRRK2）遗传学与帕金森病
Adv Neurobiol. 2017;14:3-30. doi: 10.1007/978-3-319-49969-7_1.
10
Enteric alpha-synuclein pathology in LRRK2-G2019S Parkinson's disease.LRRK2-G2019S型帕金森病中的肠道α-突触核蛋白病理学
Parkinsonism Relat Disord. 2017 Jul;40:83-84. doi: 10.1016/j.parkreldis.2017.05.001. Epub 2017 May 3.
引用本文的文献
1
Recent advances in targeting LRRK2 for Parkinson's disease treatment.针对帕金森病治疗靶向亮氨酸丰富重复激酶2（LRRK2）的最新进展。
J Transl Med. 2025 Jul 8;23(1):754. doi: 10.1186/s12967-025-06354-0.
2
The Evolving Global Burden of Young-Onset Parkinson's Disease (1990-2021): Regional, Gender, and Age Disparities in the Context of Rising Incidence and Declining Mortality.青年型帕金森病的全球负担演变（1990 - 2021年）：发病率上升和死亡率下降背景下的地区、性别和年龄差异
Brain Behav. 2025 Jul;15(7):e70659. doi: 10.1002/brb3.70659.
3
G9a an Epigenetic Therapeutic Strategy for Neurodegenerative Conditions: From Target Discovery to Clinical Trials.G9a：神经退行性疾病的一种表观遗传治疗策略——从靶点发现到临床试验
Med Res Rev. 2025 May;45(3):985-1015. doi: 10.1002/med.22096. Epub 2025 Jan 6.
4
Identification of Novel Genetic Loci Affecting Age at Onset of Parkinson's Disease: A Genome-wide Association Study.影响帕金森病发病年龄的新型基因位点的鉴定：一项全基因组关联研究。
Mov Disord. 2025 Jan;40(1):77-86. doi: 10.1002/mds.30047. Epub 2024 Nov 6.
5
Mitochondrial dysfunction in Parkinson's disease - a key disease hallmark with therapeutic potential.帕金森病中的线粒体功能障碍——具有治疗潜力的关键疾病标志。
Mol Neurodegener. 2023 Nov 11;18(1):83. doi: 10.1186/s13024-023-00676-7.
6
Caffeine intake interacts with Asian gene variants in Parkinson's disease: a study in 4488 subjects.咖啡因摄入与帕金森病中的亚洲基因变异相互作用：一项对4488名受试者的研究。
Lancet Reg Health West Pac. 2023 Sep 4;40:100877. doi: 10.1016/j.lanwpc.2023.100877. eCollection 2023 Nov.
7
Targeting LRRK2 in Parkinson's disease.靶向帕金森病中的 LRRK2。
Cell Rep Med. 2022 Oct 18;3(10):100778. doi: 10.1016/j.xcrm.2022.100778.
8
Mitophagy and reactive oxygen species interplay in Parkinson's disease.线粒体自噬与活性氧在帕金森病中的相互作用。
NPJ Parkinsons Dis. 2022 Oct 18;8(1):135. doi: 10.1038/s41531-022-00402-y.
9
High-Throughput Sequencing Haplotype Analysis Indicates in Gene a Potential Risk Factor for Endemic Parkinsonism in Southeastern Moravia, Czech Republic.高通量测序单倍型分析表明，在捷克共和国摩拉维亚东南部，基因是地方性帕金森病的一个潜在风险因素。
Life (Basel). 2022 Jan 14;12(1):121. doi: 10.3390/life12010121.
10
Early-Onset Parkinsonism and Early-Onset Parkinson's Disease: A Population-Based Study (2010-2015).早发性帕金森病与早发性帕金森病：基于人群的研究（2010-2015 年）。
J Parkinsons Dis. 2021;11(3):1197-1207. doi: 10.3233/JPD-202464.
本文引用的文献
1
Parkinson's disease.帕金森病。
Lancet. 2015 Aug 29;386(9996):896-912. doi: 10.1016/S0140-6736(14)61393-3. Epub 2015 Apr 19.
2
LRRK2 G2385R and R1628P mutations are associated with an increased risk of Parkinson's disease in the Malaysian population.LRRK2基因的G2385R和R1628P突变与马来西亚人群患帕金森病的风险增加相关。
Biomed Res Int. 2014;2014:867321. doi: 10.1155/2014/867321. Epub 2014 Aug 28.
3
LRRK2, a puzzling protein: insights into Parkinson's disease pathogenesis.LRRK2，一种令人费解的蛋白质：对帕金森病发病机制的见解。
Exp Neurol. 2014 Nov;261:206-16. doi: 10.1016/j.expneurol.2014.05.025. Epub 2014 Jun 4.
4
Genetic variants in sporadic Parkinson's disease: East vs West.散发性帕金森病中的遗传变异：东西方的比较。
Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S63-5. doi: 10.1016/S1353-8020(11)70021-9.
5
LRRK2 G2385R modulates age at onset in Parkinson's disease: A multi-center pooled analysis.LRRK2基因G2385R突变对帕金森病发病年龄的影响：一项多中心汇总分析。
Am J Med Genet B Neuropsychiatr Genet. 2009 Oct 5;150B(7):1022-3. doi: 10.1002/ajmg.b.30923.
6
The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease.路易小体与特发性帕金森病发病机制的相关性。
J Neurol Neurosurg Psychiatry. 1988 Jun;51(6):745-52. doi: 10.1136/jnnp.51.6.745.
Zotero 插件