Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients
This is the first DRPLA cohort study to comprehensively report clinical, genetic, cognitive, imaging, and plasma neurofilament light data. This study provides robust data to enhance our understanding of the overall features of DRPLA. We also propose clear definitions for the preclinical stage of DRPLA, and demonstrate the high diagnostic utility of plasma neurofilament light as a biomarker. ANN NEUROL 2025;98:750-761.
Authors
- Yayun Yan
- Jin‐Tai Yu (ORCID: https://orcid.org/0000-0002-7686-0547)
- Ya‐Fang Chen (ORCID: https://orcid.org/0000-0003-2995-9189)
- Jianping Hu (ORCID: https://orcid.org/0000-0002-2750-6613)
- Yi‐Min Sun (ORCID: https://orcid.org/0000-0002-3073-6444)
- Qi‐Jie Zhang (ORCID: https://orcid.org/0000-0002-1311-5582)
- Xianjin Shang (ORCID: https://orcid.org/0000-0002-5833-4455)
- Wei Lin (ORCID: https://orcid.org/0000-0002-0832-7548)
- Yusen Qiu
- Shi‐Rui Gan (ORCID: https://orcid.org/0000-0001-7552-5141)
- Minjin Wang (ORCID: https://orcid.org/0000-0001-7989-0330)
- Ru‐Ying Yuan (ORCID: https://orcid.org/0000-0001-8438-1899)
- Jie Zu
- Min‐Ting Lin
- Ying Fu (ORCID: https://orcid.org/0000-0002-1590-3945)
- Xintong Yu (ORCID: https://orcid.org/0000-0002-3651-0462)
- Yi‐Heng Zeng (ORCID: https://orcid.org/0000-0003-2020-752X)
- En‐Lin Dong
- Mengcheng Li
- Lei Pan (ORCID: https://orcid.org/0000-0003-3724-1783)
- Jiaojiao Wei
- Wan‐Jin Chen (ORCID: https://orcid.org/0000-0002-9472-8494)
- Zhi‐Ying Wu (ORCID: https://orcid.org/0000-0003-2106-572X)
- Naiqing Cai (ORCID: https://orcid.org/0000-0002-5501-2565)
- Chun‐Yan Cao
- Qing Ke
- Zhengbiao Ouyang (ORCID: https://orcid.org/0000-0002-1466-7813)
- Heying Sun (ORCID: https://orcid.org/0000-0002-9724-4778)
- Y L Ye
- Ning Wang (ORCID: https://orcid.org/0000-0002-9655-9735)
- Yang Xiao (ORCID: https://orcid.org/0000-0002-0516-0543)
- Xinyuan Chen (ORCID: https://orcid.org/0000-0002-3241-6719)
- Xing‐Wang Song
- Haitao Zhou (ORCID: https://orcid.org/0000-0002-5378-0237)
- Chao Wu (ORCID: https://orcid.org/0000-0002-0297-308X)
- Yu Lin (ORCID: https://orcid.org/0000-0001-6445-6603)
- Yi Dong (ORCID: https://orcid.org/0000-0002-6921-7932)
- Linwei Zhang (ORCID: https://orcid.org/0000-0002-7094-8345)
- Mao‐Lin Cui
- Youyi Dai (ORCID: https://orcid.org/0000-0001-5315-6250)
- Cheng Bi
- Bei‐Ning Ye
- Dan‐Dan Zuo
Institutions
- Fujian Medical University (CN)
- Ministry of Education of the People's Republic of China (CN)
- Nanchang University (CN)
- Sun Yat-sen University (CN)
- Xuzhou Medical College (CN)
- Jilin University (CN)
- Sichuan University (CN)
- Fudan University (CN)
- China-Japan Friendship Hospital (CN)
- Zhengzhou University (CN)
- West China Hospital of Sichuan University (CN)
- Second Affiliated Hospital of Guangzhou Medical University (CN)
- Zhangzhou Municipal Hospital of Fujian Province (CN)
- First Affiliated Hospital of Fujian Medical University (CN)
- Hubei Polytechnic University (CN)
- Luoyang Central Hospital Affiliated to Zhengzhou University (CN)
- Henan Provincial People's Hospital (CN)
- Second Affiliated Hospital of Fujian Medical University (CN)
- Second Affiliated Hospital of Zhejiang University (CN)
- Huashan Hospital (CN)
- Huangshi Central Hospital (CN)
- Union Hospital (CN)
- First Affiliated Hospital of Nanchang University (CN)
- First Affiliated Hospital Zhejiang University (CN)
- First Affiliated Hospital of Wannan Medical College (CN)
- State Key Laboratory of Medical Neurobiology
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2025-06-24
- DOI
- https://doi.org/10.1002/ana.27293
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Fujian Provincial Department of Science and Technology