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
{"title":"Carriers of Parkinson's disease-linked SNCA Rep1 variant have greater non-motor decline: a 4 year follow up study.","authors":"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","doi":"10.18632/aging.206196","DOIUrl":null,"url":null,"abstract":"<p><p>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 (<i>n</i> = 111) vs. short (<i>n</i> = 97) Rep1 allele carriers. Long Rep1 carriers demonstrated faster decline in global cognition (<i>p</i> = 0.023) and increasing apathy (<i>p</i> = 0.027), with greater decline in attention and memory domains (<i>p</i> = 0.001), highlighting the utility of Rep1 polymorphism in stratifying patients at risk of non-motor symptom decline.</p>","PeriodicalId":55547,"journal":{"name":"Aging-Us","volume":"null ","pages":""},"PeriodicalIF":3.9000,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Aging-Us","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.18632/aging.206196","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 0
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.