Carriers of Parkinson's disease-linked SNCA Rep1 variant have greater non-motor decline: a 4 year follow up study.

IF 3.9 3区 医学 Q2 CELL BIOLOGY Aging-Us Pub Date : 2025-02-03 DOI:10.18632/aging.206196
Aarthi Santhanakrishnan, Yi Jayne Tan, Seyed Ehsan Saffari, Yi Zhao, Ebonne Y L Ng, Samuel Y E Ng, Nicole S Y Chia, Xinyi Choi, Dede Heng, Shermyn Neo, Zheyu Xu, Kay Yaw Tay, Wing Lok Au, Eng-King Tan, Louis C S Tan, Adeline S L Ng
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Abstract

Alpha-synuclein gene promoter (SNCA Rep1) polymorphism has been linked to Parkinson's Disease (PD) susceptibility and motor symptom severity, but less is known about its longitudinal relationship with non-motor symptom severity. To address this gap, this is the first longitudinal study over 4 years investigating the relationship between Rep1 allele length and non-motor function amongst 208 early PD patients grouped into long (n = 111) vs. short (n = 97) Rep1 allele carriers. Long Rep1 carriers demonstrated faster decline in global cognition (p = 0.023) and increasing apathy (p = 0.027), with greater decline in attention and memory domains (p = 0.001), highlighting the utility of Rep1 polymorphism in stratifying patients at risk of non-motor symptom decline.

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帕金森病相关SNCA Rep1变异的携带者有更大的非运动能力下降:一项为期4年的随访研究
α -突触核蛋白基因启动子(SNCA Rep1)多态性与帕金森病(PD)易感性和运动症状严重程度有关,但其与非运动症状严重程度的纵向关系尚不清楚。为了解决这一差距,这是第一项为期4年的纵向研究,调查了208名早期PD患者中Rep1等位基因长度与非运动功能之间的关系,这些患者被分为长(n = 111)和短(n = 97) Rep1等位基因携带者。长Rep1携带者表现出全球认知能力下降更快(p = 0.023)和冷漠增加(p = 0.027),注意和记忆领域下降更大(p = 0.001),突出了Rep1多态性在分层非运动症状下降风险患者中的作用。
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来源期刊
Aging-Us
Aging-Us CELL BIOLOGY-
CiteScore
10.00
自引率
0.00%
发文量
595
审稿时长
6-12 weeks
期刊介绍: Information not localized
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