Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral-Pallidoluysian Atrophy Patients.

doi:10.1002/ana.27293

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Article

Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral-Pallidoluysian Atrophy Patients.

Annals of neurology - 1 Oct 2025

Yuan Ru-Ying, Chen Ya-Fang, Lin Wei, Li Meng-Cheng, Zeng Yi-Heng, Cheng Bi, Yu Xin-Tong, Zuo Dan-Dan, Sun Hua-Mei, Ye Bei-Ning, Ye Ying-Xin, Cui Mao-Lin, Cai Nai-Qing, Lin Yu, Zhang Qi-Jie, Qiu Yu-Sen, Zhang Lin-Wei, Song Xing-Wang, Wei Jia-Na, Pan Li-Ying, Yan Ya-Yun, Sun Yi-Min, Yu Jin-Tai, Wu Zhi-Ying, Dong Yi, Cao Chun-Yan, Wu Chao, Zu Jie, Dai Yuan-Yuan, Shang Xian-Jin, Zhou Hai-Tao, Wang Min-Jin, Ke Qing, Dong En-Lin, Xiao Yi-Feng, Ouyang Zi-Yue, Chen Xin-Yuan, Hu Jian-Ping, Lin Min-Ting, Fu Ying, Chen Wan-Jin, Wang Ning, Gan Shi-Rui

Abstract excerpt

OBJECTIVE: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, inherited neurodegenerative disorder caused by the expansion of cytosine-adenine-guanine repeats in ATN1. Most studies on DRPLA to date are limited to case reports. We aimed to provide a comprehensive summary of the clinical, genetic, biological, and magnetic resonance imaging characteristics of DRPLA using cross-sectional baseline data. METHODS:...

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PMID: 40552560
DOI: 10.1002/ana.27293

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ATN1

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