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<p>The frequency and clinical impact of <i>LRRK2</i> p.G2385R and p.R1628P risk variants in Parkinson’s disease (PD) remain uncertain, particularly across different Asian populations. We genotyped 3058 multi-ethnic Malaysian PD patients, performed detailed phenotyping in 185, and analyzed disease progression in 635 using longitudinal Clinical Impression of Severity Index for PD scores. p.G2385R was largely confined to Chinese (8.2%), while p.R1628P occurred in mixed ancestry (11.0%), Chinese (8.3%), Malays (7.7%), and is reported for the first time in indigenous groups (3.9%). Double-variant carriers had younger onset and more frequently had positive family history. Compared with non-carriers, p.R1628P carriers had lower rates of dementia and orthostatic hypotension, and slower progression of global PD severity. Our findings highlight ethnic differences in the distribution of <i>LRRK2</i> Asian variants, and suggest that these variants influence onset age, familial occurrence, non-motor features, and disease course, with implications for personalized approaches to PD in Asian populations.</p>

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LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson’s Cohort: epidemiology and clinical insights

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月18日

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  • Jun Wen Goh,
  • Jia Lun Lim,
  • Tzi Shin Toh,
  • Rui Yan Ong,
  • Qing Hui Yong,
  • Cindy Choey Yee Lew,
  • Jia Wei Hor,
  • Yi Wen Tay,
  • Jannah Zulkefli,
  • Anis Nadhirah Khairul Anuar,
  • Hans Xing Ding,
  • Jie Ping Schee,
  • Yuan Ye Beh,
  • Khairul Azmi Ibrahim,
  • Ahmad Shahir Mawardi,
  • Thien Thien Lim,
  • Irene Looi,
  • Yuen Kang Chia,
  • Joshua Chin Ern Ooi,
  • Wan Chung Law,
  • Siaw Cheng Wong,
  • Yue Hui Lau,
  • Pei Chiek Teh,
  • Tien Lee Ong,
  • Wee Kooi Cheah,
  • Esther Sammler,
  • Shalini Padmanabhan,
  • Lei Cheng Lit,
  • Eng King Tan,
  • Azlina Ahmad-Annuar,
  • Shen-Yang Lim,
  • Ai Huey Tan

摘要

The frequency and clinical impact of LRRK2 p.G2385R and p.R1628P risk variants in Parkinson’s disease (PD) remain uncertain, particularly across different Asian populations. We genotyped 3058 multi-ethnic Malaysian PD patients, performed detailed phenotyping in 185, and analyzed disease progression in 635 using longitudinal Clinical Impression of Severity Index for PD scores. p.G2385R was largely confined to Chinese (8.2%), while p.R1628P occurred in mixed ancestry (11.0%), Chinese (8.3%), Malays (7.7%), and is reported for the first time in indigenous groups (3.9%). Double-variant carriers had younger onset and more frequently had positive family history. Compared with non-carriers, p.R1628P carriers had lower rates of dementia and orthostatic hypotension, and slower progression of global PD severity. Our findings highlight ethnic differences in the distribution of LRRK2 Asian variants, and suggest that these variants influence onset age, familial occurrence, non-motor features, and disease course, with implications for personalized approaches to PD in Asian populations.