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Case Report
- Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
- Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
- J Mov Disord. 2021;14(1):65-69. Published online October 31, 2020
- DOI: https://doi.org/10.14802/jmd.20083
- 5,730 View
- 154 Download
- 6 Web of Science
- 6 Crossref
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Abstract
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Supplementary Material - Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.
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Citations
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- Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
Sung-Ju Hsueh, Chin-Hsien Lin, Ni-Chung Lee, Tung-Ming Chang, Sung-Pin Fan, Wan-De Huang, Yea-Huey Lin, Li-Kai Tsai, Yin-Hsiu Chien, Ming-Jen Lee, Wuh-Liang Hwu, Hsueh Wen Hsueh, Chih-Chao Yang
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef - Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I
Yi-Chu Du, Ling-Han Ma, Quan-Fu Li, Yin Ma, Yi Dong, Zhi-Ying Wu
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef - Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation
Jingjing Lin, Yun‐Lu Li, Bo‐Li Chen, Hui‐Zhen Su, Yi‐Heng Zeng, Rui‐Huang Zeng, Yu‐Duo Zhang, Ru‐Kai Chen, Nai‐Qing Cai, Yi‐Kun Chen, Ru‐Ying Yuan, Jun‐Yi Jiang, Xiang‐Ping Yao, Ning Wang, Wan‐Jin Chen, Kang Yang
Annals of Clinical and Translational Neurology.2024; 11(11): 2998. CrossRef - Two cases of type I sialidosis and a literature review
Yuan Ding, Ming Cheng, Chunxiu Gong
Orphanet Journal of Rare Diseases.2024;[Epub] CrossRef - Sialidosis type 1 in a Turkish family: a case report and review of literatures
Mustafa Kılıç, Suzan İcil, Abdullah Sezer, Öznur Kaya-Güneş, Selim S. Comoğlu
Journal of Pediatric Endocrinology and Metabolism.2024;[Epub] CrossRef - A fuzzy rule based machine intelligence model for cherry red spot disease detection of human eyes in IoMT
Kalyan Kumar Jena, Sourav Kumar Bhoi, Debasis Mohapatra, Chittaranjan Mallick, Kshira Sagar Sahoo, Anand Nayyar
Wireless Networks.2023; 29(1): 247. CrossRef
- Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis – a case series study
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