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Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.

Cerebellum (London, England) - 22 Aug 2025

Huang Xin, Chen Zhao, Jiang Qian, Liu Panyan, Gong Yiqing, Lei Lijing, Chen Jia, Wang Chunrong, Wan Linlin, He Lang, Peng Linliu, Qiu Rong, Tang Beisha, Jiang Hong

Abstract excerpt

SYNE1 ataxia is recognized as a multisystemic neurodegenerative disorder globally. The complicated phenotypic spectrum, ranging from pure cerebellar ataxia to diverse combinations of non-cerebellar dysfunctions, poses significant challenges for clinical diagnosis and investigation of its underlying pathogenic mechanisms. Recent research has identified pathogenic variants in SYNE1 as a significant contributor to...

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PMID: 40841461
DOI: 10.1007/s12311-025-01898-9

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