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Original Article
- Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1
- Yingji Li, Yang Liu, Rongfei Wang, Ran Ao, Feng Xiang, Xu Zhang, Xiangqing Wang, Shengyuan Yu
- J Mov Disord. 2024;17(3):282-293. Published online April 11, 2024
- DOI: https://doi.org/10.14802/jmd.23145
- 7,601 View
- 126 Download
- 5 Web of Science
- 4 Crossref
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Abstract
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Supplementary Material - Objective
Sialidosis type 2 has variants that are both catalytically inactive (severe), while sialidosis type 1 has at least one catalytically active (mild) variant. This study aimed to discuss the structural changes associated with these variants in a newly reported family carrying N-acetyl-α-neuraminidase-1 (NEU1) variants and explore the clinical characteristics of different combinations of variants in sialidosis type 1.
Methods
First, whole-exome sequencing and detailed clinical examinations were performed on the family. Second, structural analyses, including assessments of energy, flexibility and polar contacts, were conducted for several NEU1 variants, and a sialidase activity assay was performed. Third, previous NEU1 variants were systematically reviewed, and the clinical characteristics of patients in the severe-mild and mild-mild groups with sialidosis type 1 were analyzed.
Results
We report a novel family with sialidosis type 1 and the compound heterozygous variants S182G and V143E. The newly identified V143E variant was predicted to be a mild variant through structural analysis and was confirmed by a sialidase activity assay. Cherry-red spots were more prevalent in the severe-mild group, and ataxia was more common in the mild-mild group. Impaired cognition was found only in the severe-mild group. Moreover, patients with cherry-red spots and abnormal electroencephalographies and visual evoked potentials had a relatively early age of onset, whereas patients with myoclonus had a late onset.
Conclusion
Changes in flexibility and local polar contacts may be indicators of NEU1 pathogenicity. Sialidosis type 1 can be divided into two subgroups according to the variant combinations, and patients with these two subtypes have different clinical characteristics. -
Citations
Citations to this article as recorded by
- Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pabl
Epilepsia Open.2026; 11(2): 577. CrossRef - Decoding sialidase: physiological roles, pathological pathways, and clinical opportunities
Rushi Li, Yafei Liu, Rentong Zou, Meifeng Li
Frontiers in Cellular and Infection Microbiology.2026;[Epub] CrossRef - Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders
Irina Vlasova-St. Louis, Svetlana Khaiboullina
Genes.2026; 17(6): 643. CrossRef - Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis
Mei-Ling Peng, Siu-Fung Chau, Jia-Ying Chien, Peng-Yeong Woon, Yu-Chen Chen, Wai-Man Cheang, Hsien-Yang Tsai, Shun-Ping Huang
Genes.2025; 16(2): 151. CrossRef
- Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature
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