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Article

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Annals of clinical and translational neurology - 1 Nov 2024

Lin Jingjing, Li Yun-Lu, Chen Bo-Li, Su Hui-Zhen, Zeng Yi-Heng, Zeng Rui-Huang, Zhang Yu-Duo, Chen Ru-Kai, Cai Nai-Qing, Chen Yi-Kun, Yuan Ru-Ying, Jiang Jun-Yi, Yao Xiang-Ping, Wang Ning, Chen Wan-Jin, Yang Kang

Abstract excerpt

OBJECTIVE: Expand genetic screening for atypical Type I sialidosis (ST-1) could address its underdiagnosed in both progressive myoclonic ataxia (PMA) and ataxia patients. To evaluate the potential founder effect of mutation in the population. METHODS: We enrolled 231 patients with PMA or ataxia from the First Affiliated Hospital of Fujian Medical University. Through Whole Exome Sequencing and Sanger sequencing,...

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Identifiers

PMID: 39482827
DOI: 10.1002/acn3.52212
PMCID: PMC11572746

Genes

NEU1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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