GBA 突变与快速眼动睡眠行为障碍有关。
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.
机构信息
Montreal Neurological Institute, McGill University Montréal, Quebec, Canada ; Department of Human Genetics, McGill University Montréal, Quebec, Canada.
Department of Neurology, Tel-Aviv Sourasky Medical Center Tel-Aviv, Israel.
出版信息
Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31.
Abstract
Rapid eye movement sleep behavior disorder and GBA mutations are both associated with Parkinson's disease. The GBA gene was sequenced in idiopathic rapid eye movement sleep behavior disorder patients (n = 265), and compared to controls (n = 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinson's disease cohort (n = 120). GBA mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, P < 0.0001) for rapid eye movement sleep behavior disorder, and among Parkinson's disease patients, the OR for mutation carriers to have probable rapid eye movement sleep behavior disorder was 3.13 (P = 0.039). These results demonstrate that rapid eye movement sleep behavior disorder is associated with GBA mutations, and that combining genetic and prodromal data may assist in identifying individuals susceptible to Parkinson's disease.
摘要
快速眼动睡眠行为障碍和 GBA 突变均与帕金森病有关。我们对特发性快速眼动睡眠行为障碍患者（n=265）进行了 GBA 基因测序，并与对照组（n=2240）进行了比较。我们对一个独立的帕金森病队列（n=120）进行了快速眼动睡眠行为障碍问卷评估。GBA 突变携带者发生快速眼动睡眠行为障碍的 OR 为 6.24（患者中为 10.2%，对照组中为 1.8%，P<0.0001），而在帕金森病患者中，突变携带者发生可能的快速眼动睡眠行为障碍的 OR 为 3.13（P=0.039）。这些结果表明，快速眼动睡眠行为障碍与 GBA 突变有关，结合遗传和前驱期数据可能有助于识别易患帕金森病的个体。
相似文献
1
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder.GBA 突变与快速眼动睡眠行为障碍有关。
Ann Clin Transl Neurol. 2015 Sep;2(9):941-5. doi: 10.1002/acn3.228. Epub 2015 Jul 31.
2
Markers of neurodegeneration in idiopathic rapid eye movement sleep behaviour disorder and Parkinson's disease.特发性快速眼动睡眠行为障碍和帕金森病的神经退行性标志物。
Brain. 2009 Dec;132(Pt 12):3298-307. doi: 10.1093/brain/awp244.
3
Attenuated heart rate response in REM sleep behavior disorder and Parkinson's disease.快速眼动睡眠行为障碍和帕金森病患者的心率反应减弱。
Mov Disord. 2012 Jun;27(7):888-94. doi: 10.1002/mds.25012. Epub 2012 May 3.
4
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.伴有和不伴有GBA突变的帕金森病中的葡萄糖脑苷脂酶活性
Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.
5
Abnormal occipital event-related potentials in Parkinson's disease with concomitant REM sleep behavior disorder.帕金森病伴快速眼动睡眠行为障碍的异常枕叶事件相关电位。
Parkinsonism Relat Disord. 2013 Feb;19(2):212-7. doi: 10.1016/j.parkreldis.2012.10.006. Epub 2012 Oct 26.
6
Patients with idiopathic rapid-eye-movement sleep behavior disorder show normal gastric motility assessed by the 13C-octanoate breath test.特发性快动眼睡眠行为障碍患者的 13C-辛酸呼气试验显示胃动力正常。
Mov Disord. 2011 Dec;26(14):2559-63. doi: 10.1002/mds.23933. Epub 2011 Aug 24.
7
Sleep aspects on video-polysomnography in LRRK2 mutation carriers.LRRK2 突变携带者的视频多导睡眠图中的睡眠方面。
Mov Disord. 2015 Nov;30(13):1839-43. doi: 10.1002/mds.26412. Epub 2015 Oct 15.
8
Cardiac autonomic denervation in Parkinson's disease is linked to REM sleep behavior disorder.帕金森病患者的心脏自主神经去神经支配与 REM 睡眠行为障碍有关。
Mov Disord. 2011 Jul;26(8):1529-33. doi: 10.1002/mds.23677. Epub 2011 Apr 29.
9
Patterns of cortical thinning in idiopathic rapid eye movement sleep behavior disorder.特发性快速眼动睡眠行为障碍的皮质变薄模式。
Mov Disord. 2015 Apr 15;30(5):680-7. doi: 10.1002/mds.25820. Epub 2014 Feb 22.
10
Consistent abnormalities in metabolic network activity in idiopathic rapid eye movement sleep behaviour disorder.特发性快速眼动睡眠行为障碍代谢网络活性的一致性异常。
Brain. 2014 Dec;137(Pt 12):3122-8. doi: 10.1093/brain/awu290. Epub 2014 Oct 22.
引用本文的文献
1
Distinctive cognitive phenotypes in Parkinson's disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study.携带GBA突变且无痴呆的帕金森病患者的独特认知表型：一项多中心横断面回顾性研究。
Clin Park Relat Disord. 2025 Jul 4;13:100365. doi: 10.1016/j.prdoa.2025.100365. eCollection 2025.
2
Sleep Disturbance in Parkinson's Disease: Consequences for the Brain and Disease Progression - A Narrative Review.帕金森病中的睡眠障碍：对大脑和疾病进展的影响——一篇叙述性综述
Nat Sci Sleep. 2025 Jun 28;17:1521-1537. doi: 10.2147/NSS.S478860. eCollection 2025.
3
Gene Polymorphisms of Parkinson's Disease Risk Locus and Idiopathic REM Sleep Behavior Disorder.帕金森病风险位点与特发性快速眼动睡眠行为障碍的基因多态性
Biomedicines. 2025 Mar 24;13(4):788. doi: 10.3390/biomedicines13040788.
4
Male sex accelerates cognitive decline in GBA1 Parkinson's disease.男性性别会加速GBA1型帕金森病的认知衰退。
NPJ Parkinsons Dis. 2025 Mar 4;11(1):41. doi: 10.1038/s41531-025-00883-7.
5
Cyclic Alternating Pattern Dynamics in Individuals at Risk for Developing Parkinson's Disease.帕金森病高危个体的周期性交替模式动态变化
Ann Neurol. 2025 Jul;98(1):136-146. doi: 10.1002/ana.27217. Epub 2025 Feb 21.
6
Polygenic scores for disease risk are not associated with clinical outcomes in Parkinson's disease.帕金森病疾病风险的多基因评分与临床结局无关。
medRxiv. 2025 Feb 3:2025.01.31.25321395. doi: 10.1101/2025.01.31.25321395.
7
A Global Perspective of -Related Parkinson's Disease: A Narrative Review.与[具体内容缺失]相关的帕金森病的全球视角：一篇叙述性综述
Genes (Basel). 2024 Dec 16;15(12):1605. doi: 10.3390/genes15121605.
8
Factors associated with phenoconversion of idiopathic rapid eye movement sleep behavior disorder: a prospective study.特发性快速眼动睡眠行为障碍表型转化的相关因素：一项前瞻性研究
NPJ Parkinsons Dis. 2025 Jan 6;11(1):10. doi: 10.1038/s41531-024-00856-2.
9
Approaches to Early Parkinson's Disease Subtyping.早期帕金森病亚型的分类方法。
J Parkinsons Dis. 2024;14(s2):S297-S306. doi: 10.3233/JPD-230419.
10
Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson's disease.GBA1 相关帕金森病的临床、机制、生物标志物和治疗进展。
Transl Neurodegener. 2024 Sep 12;13(1):48. doi: 10.1186/s40035-024-00437-6.
本文引用的文献
1
Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.快速眼动睡眠行为障碍中的帕金森病遗传位点
J Mol Neurosci. 2015 Jul;56(3):617-22. doi: 10.1007/s12031-015-0569-7. Epub 2015 May 1.
2
Differential effects of severe vs mild GBA mutations on Parkinson disease.重度与轻度GBA突变对帕金森病的不同影响。
Neurology. 2015 Mar 3;84(9):880-7. doi: 10.1212/WNL.0000000000001315. Epub 2015 Feb 4.
3
Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.GBA 突变阳性队列中帕金森病前驱临床标志物的演变
JAMA Neurol. 2015 Feb;72(2):201-8. doi: 10.1001/jamaneurol.2014.2950.
4
Prioritized research recommendations from the National Institute of Neurological Disorders and Stroke Parkinson's Disease 2014 conference.美国国立神经疾病与中风研究所2014年帕金森病会议的重点研究建议。
Ann Neurol. 2014 Oct;76(4):469-72. doi: 10.1002/ana.24261. Epub 2014 Sep 23.
5
Prodromal Parkinson's disease--using REM sleep behavior disorder as a window.前驱期帕金森病——以 REM 睡眠行为障碍为窗口。
Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1:S1-4. doi: 10.1016/S1353-8020(13)00400-8.
6
Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder.172 例快速眼动睡眠行为障碍伴或不伴伴发神经障碍的临床病理相关性。
Sleep Med. 2013 Aug;14(8):754-62. doi: 10.1016/j.sleep.2012.10.015. Epub 2013 Mar 7.
7
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.E326K 变异的葡萄糖脑苷脂酶易患帕金森病，但不会导致戈谢病。
Mov Disord. 2013 Feb;28(2):232-236. doi: 10.1002/mds.25248. Epub 2012 Dec 5.
8
GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.GBA 突变增加了伴有和不伴有阿尔茨海默病病理的路易体病的风险。
Neurology. 2012 Nov 6;79(19):1944-50. doi: 10.1212/WNL.0b013e3182735e9a. Epub 2012 Oct 3.
9
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.帕金森病的荟萃分析：鉴定一个新的位点，RIT2。
Ann Neurol. 2012 Mar;71(3):370-84. doi: 10.1002/ana.22687.
10
Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.早发性帕金森病 GBA 突变携带者的认知表现：CORE-PD 研究。
Neurology. 2012 May 1;78(18):1434-40. doi: 10.1212/WNL.0b013e318253d54b. Epub 2012 Mar 21.
Zotero 插件