ReviewCerebellum (London, England)2019
Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.
Review in Cerebellum (London, England), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Type I Sialidosis in a Chinese family: a case report and literature review.Acta epileptologica · 2025Article
- Neuraminidase 1 regulates neuropathogenesis by governing the cellular state of microglia via modulation of Trem2 sialylation.Cell reports · 2025Article
- Genetic Insights and Clinical Implications ofGenes · 2025Review
- Two cases of type I sialidosis and a literature review.Orphanet journal of rare diseases · 2024Review
- Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.Journal of movement disorders · 2024Article
- Review
- Clinical and Diagnostic Significance of Sialic Acids Determination in Biological Material.Biochemistry (Moscow) Supplement. Series B, Biomedical chemistry · 2022Article
- Neu1 deficiency induces abnormal emotional behavior in zebrafish.Scientific reports · 2021Article
- Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.World journal of clinical cases · 2021Article
- Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.Tremor and other hyperkinetic movements (New York, N.Y.) · 2021Article
- Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?Journal of movement disorders · 2021Article
- Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021Review
- Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.Molecular genetics & genomic medicine · 2020Article
- Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.Brain sciences · 2020Article
- Clinical and genetic characteristics of type I sialidosis patients in mainland China.Annals of clinical and translational neurology · 2020Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Recent advances in next-generation sequencing technologies have uncovered the genetic backgrounds of various diseases. Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene. In this study, we aimed to review the previous reports of type 1 sialidosis and compare those with the first case of type 1 sialidosis in Korea. A 36-year-old woman presented with progressive ataxia, myoclonus, and seizure since the age of 12. Whole-exome sequencing revealed a pathogenic missense variant c.928G > A (p.D310N) and novel c.15_16del (p.P6Qfs*21) of the NEU1 gene as final causal candidate as compound heterozygotes. We reviewed the literature and selected the clinical reports of genetically confirmed type 1 sialidosis patients. A total of 45 patients in 17 reports were identified. Cherry-red spot, myoclonus, ataxia, and seizure were reported in 51.2%, 100.0%, 87.8%, and 73.7% of patients, respectively. Abnormalities of cognitive function, EEG, and brain MRI and visual symptoms were reported in 22.2%, 40.7%, 66.7%, and 70.2% of patients, respectively. Overall, our patient showed similar clinical features to previous type 1 sialidosis patients, but she did not complain of visual symptoms despite having cherry-red spots. We summarize the clinical features of type 1 sialidosis and report the first case of type 1 sialidosis with novel deletion variant in the NEU1 gene in the Korean population. Our study suggests the importance of ophthalmologic examinations in patients with myoclonus, ataxia, and seizure who do not complain of visual symptoms.
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