Clinical features and progression of Parkinson's disease with LRRK2 variants: A prospective study.

IF 4.4 2区医学 Q1 CLINICAL NEUROLOGY Annals of Clinical and Translational Neurology Pub Date : 2024-11-11 DOI:10.1002/acn3.52244

Tingwei Song, Xiaoxia Zhou, Chunyu Wang, Heng Wu, Xinxiang Yan, Jifeng Guo, Beisha Tang, Lifang Lei, Qian Xu

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Abstract

Objective: We established a prospective cohort study to investigate the differences in motor and non-motor symptoms between idiopathic Parkinson's disease (IPD) and Parkinson's disease in carriers of leucine-rich repeat kinase 2 (LRRK2) gene risk variants (LRRK2-PD).

Methods: The study included 1407 individuals with IPD and 649 individuals with LRRK2-PD (comprising 304 with LRRK2-G2385R, 220 with LRRK2-R1628P, and 105 with LRRK2-A419V). Differences in symptoms between LRRK2-PD and IPD were analyzed using LCMM modeling and Cox regression analysis.

Results: The LRRK2-G2385R variant showed slower progression in tremor symptoms and excessive daytime sleepiness compared with IPD. In contrast, symptoms associated with LRRK2-R1628P and LRRK2-A419V were more similar to those of IPD. Survival analysis revealed that LRRK2-PD does not affect life expectancy compared with IPD.

Interpretation: Our extended longitudinal follow-up of LRRK2-PD in the Chinese population provided valuable insights, further confirming the clinical characteristics of the three LRRK2 variants.

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帕金森病 LRRK2 变体的临床特征和进展：前瞻性研究

研究目的我们建立了一项前瞻性队列研究，以调查特发性帕金森病（IPD）和富亮氨酸重复激酶2（LRRK2）基因风险变异携带者帕金森病（LRRK2-PD）在运动症状和非运动症状方面的差异：研究对象包括1407名IPD患者和649名LRRK2-PD患者（包括304名LRRK2-G2385R携带者、220名LRRK2-R1628P携带者和105名LRRK2-A419V携带者）。采用LCMM建模和Cox回归分析法分析了LRRK2-PD和IPD之间的症状差异：结果：与 IPD 相比，LRRK2-G2385R 变异体的震颤症状和白天过度嗜睡的进展较慢。相比之下，LRRK2-R1628P 和 LRRK2-A419V 的相关症状与 IPD 更为相似。生存分析表明，与IPD相比，LRRK2-PD不会影响预期寿命：我们对中国人群中的LRRK2-PD进行的长期纵向随访提供了有价值的见解，进一步证实了三种LRRK2变异体的临床特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Clinical and Translational Neurology Medicine-Neurology (clinical)

CiteScore

9.10

自引率

1.90%

发文量

218

审稿时长

8 weeks

期刊介绍： Annals of Clinical and Translational Neurology is a peer-reviewed journal for rapid dissemination of high-quality research related to all areas of neurology. The journal publishes original research and scholarly reviews focused on the mechanisms and treatments of diseases of the nervous system; high-impact topics in neurologic education; and other topics of interest to the clinical neuroscience community.