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Article

The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.

EBioMedicine - 1 Apr 2024

Ouyang Riwei, Wan Linlin, Pellerin David, Long Zhe, Hu Jian, Jiang Qian, Wang Chunrong, Peng Linliu, Peng Huirong, He Lang, Qiu Rong, Wang Junling, Guo Jifeng, Shen Lu, Brais Bernard, Danzi Matt C, Zuchner Stephan, Tang Beisha, Chen Zhao, Jiang Hong

Abstract excerpt

BACKGROUND: An intronic GAA repeat expansion in FGF14 was recently identified as a cause of GAA-FGF14 ataxia. We aimed to characterise the frequency and phenotypic profile of GAA-FGF14 ataxia in a large Chinese ataxia cohort. METHODS: A total of 1216 patients that included 399 typical late-onset cerebellar ataxia (LOCA), 290 early-onset cerebellar ataxia (EOCA), and 527 multiple system atrophy with predominant...

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Identifiers

PMID: 38513302
DOI: 10.1016/j.ebiom.2024.105077
PMCID: PMC10960143

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