ArticleMolecular genetics & genomic medicine2020
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Review
- Two cases of type I sialidosis and a literature review.Orphanet journal of rare diseases · 2024Review
- Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.Annals of clinical and translational neurology · 2024Article
- Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.Orphanet journal of rare diseases · 2024Article
- Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.Journal of movement disorders · 2024Article
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.JIMD reports · 2024Article
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- Sialidosis type 1 without cherry-red spots: a case report and literature review.BMJ neurology open · 2024Article
- Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?Journal of movement disorders · 2021Article
- Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1.
methodsIt was a retrospective case series study. Four unrelated patients were enrolled. Comprehensive clinical evaluations and molecular genetic analysis of the NEU1 gene were performed.
resultsThree out of four patients presented progressive myoclonus epilepsy. The best-corrected visual acuity ranged from 20/2000 to 20/25. Punctate cataracts were found in all of the patients. Distinct macular cherry red spots were observed in three patients by fundoscopy, and a relatively normal fundus was revealed in one patient. Optical coherence tomography (OCT) showed increased reflectivity of the nerve fiber and ganglion cell layers, and fundus autofluorescence (FAF) revealed hyperautofluorescent areas surrounding the fovea in all of the patients. Only superficial retinal vessels can be observed using OCT angiography; the deeper capillary plexus could not be observed. Visual evoked potential revealed varying degrees of decreased amplitude and/or prolonged latency of P100 or P2 waves. The most frequent sequence variant identified was c.544A>G (p.S182G) (NM_000434.3).
conclusionsOur study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A>G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging.
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