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本文引用的文献

1
Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease.携带LRRK2 G2019S基因的帕金森病患者的神经心理学表现。
Parkinsonism Relat Disord. 2015 Feb;21(2):106-10. doi: 10.1016/j.parkreldis.2014.09.033. Epub 2014 Nov 20.
2
Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease.LRRK2基因G2019S突变型帕金森病的非运动症状
PLoS One. 2014 Oct 17;9(10):e108982. doi: 10.1371/journal.pone.0108982. eCollection 2014.
3
A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers.基于体素的形态计量学和扩散张量成像分析无症状帕金森病相关 G2019S LRRK2 突变携带者。
Mov Disord. 2014 May;29(6):823-7. doi: 10.1002/mds.25827. Epub 2014 Jan 30.
4
Prodromal autonomic symptoms and signs in Parkinson's disease and dementia with Lewy bodies.帕金森病和路易体痴呆的前驱自主神经症状和体征。
Mov Disord. 2013 May;28(5):597-604. doi: 10.1002/mds.25445. Epub 2013 Mar 28.
5
Anxiety and depression in patients with Parkinson's disease.帕金森病患者的焦虑和抑郁
Intern Med. 2013;52(5):539-45. doi: 10.2169/internalmedicine.52.8617. Epub 2013 Mar 1.
6
Neural correlates of executive functions in healthy G2019S LRRK2 mutation carriers.健康 G2019S LRRK2 突变携带者执行功能的神经相关性。
Cortex. 2013 Oct;49(9):2501-11. doi: 10.1016/j.cortex.2012.12.017. Epub 2013 Jan 7.
7
Cerebral pathological and compensatory mechanisms in the premotor phase of leucine-rich repeat kinase 2 parkinsonism.富亮氨酸重复激酶 2 帕金森病运动前期的大脑病理和代偿机制。
Brain. 2012 Dec;135(Pt 12):3687-98. doi: 10.1093/brain/aws288.
8
When does Parkinson's disease begin? From prodromal disease to motor signs.帕金森病何时开始？从前驱期疾病到运动症状。
Rev Neurol (Paris). 2012 Nov;168(11):809-14. doi: 10.1016/j.neurol.2012.07.004. Epub 2012 Sep 13.
9
Lower cognitive performance in healthy G2019S LRRK2 mutation carriers.健康的 G2019S LRRK2 突变携带者认知能力下降。
Neurology. 2012 Sep 4;79(10):1027-32. doi: 10.1212/WNL.0b013e3182684646. Epub 2012 Aug 22.
10
Identifying prodromal Parkinson's disease: pre-motor disorders in Parkinson's disease.识别前驱帕金森病：帕金森病的运动前期障碍。
Mov Disord. 2012 Apr 15;27(5):617-26. doi: 10.1002/mds.24996.

携带LRRK2基因G2019S突变的健康阿什肯纳兹犹太人群中的非运动症状

Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene.

作者信息

Mirelman Anat, Alcalay Roy N, Saunders-Pullman Rachel, Yasinovsky Kira, Thaler Avner, Gurevich Tanya, Mejia-Santana Helen, Raymond Deborah, Gana-Weisz Mali, Bar-Shira Anat, Ozelius Laurie, Clark Lorraine, Orr-Urtreger Avi, Bressman Susan, Marder Karen, Giladi Nir

机构信息

Movement Disorders Unit, Department of Neurology, Tel-Aviv Medical Center, Department of Neurology, Israel.

College of Physicians and Surgeons, Columbia University, New York, NY, USA.

出版信息

Mov Disord. 2015 Jun;30(7):981-6. doi: 10.1002/mds.26213. Epub 2015 Mar 21.

DOI:10.1002/mds.26213
PMID:25809001
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4478229/
Abstract

BACKGROUND

The asymptomatic carriers of the Leucine rich repeat kinase 2 (LRRK2) G2019S mutation represent a population at risk for developing PD. The aim of this study was to assess differences in nonmotor symptoms between nonmanifesting carriers and noncarriers of the G2019S mutation.

METHODS

Two hundred fifty-three subjects participated in this observational cross-sectional multicenter study. Standard questionnaires assessing anxiety, depression, cognition, smell, nonmotor symptoms, and rapid eye movement (REM) sleep behavior were administered. Analyses were adjusted for age, sex, family relations, education, and site.

RESULTS

One hundred thirty-four carriers were identified. Carriers had higher nonmotor symptoms score on the Nonmotor symptoms (NMS) questionnaire (P = 0.02). These findings were amplified in carriers older than age 50 y, with higher nonmotor symptoms scores and trait anxiety scores (P < 0.03).

CONCLUSIONS

In this cross-section study, carriers of the G2019S LRRK2 mutation endorsed subtle nonmotor symptoms. Whether these are early features of PD will require a longitudinal study. © 2015 International Parkinson and Movement Disorder Society.

摘要

背景

富含亮氨酸重复激酶2（LRRK2）基因G2019S突变的无症状携带者是患帕金森病（PD）的高危人群。本研究旨在评估G2019S突变的未发病携带者与非携带者之间非运动症状的差异。

方法

253名受试者参与了这项观察性横断面多中心研究。使用标准问卷评估焦虑、抑郁、认知、嗅觉、非运动症状和快速眼动（REM）睡眠行为。分析对年龄、性别、家庭关系、教育程度和研究地点进行了校正。

结果

共识别出134名携带者。携带者在非运动症状（NMS）问卷上的非运动症状得分更高（P = 0.02）。这些发现在年龄大于50岁的携带者中更为明显，其非运动症状得分和特质焦虑得分更高（P < 0.03）。

结论

在这项横断面研究中，LRRK2基因G2019S突变的携带者存在轻微的非运动症状。这些症状是否为PD的早期特征需要进行纵向研究。© 2015国际帕金森病和运动障碍协会