Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement

Molecular Genetics and Metabolism Reports
Ahmed N MohammadPaldeep S Atwal

Abstract

Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis is classified into two types, based on phenotype and age of onset. Patients with the milder type 1 typically present late, usually in the second or third decade, with myoclonus, ataxia and visual defects. Type 2 is more severe and presents earlier with coarse facial features, developmental delay, hepatosplenomegaly and dysostosis multiplex. Presentation and severity of the disease are related to whether lysosomal sialidase is inactive or there is some residual activity. Diagnosis is suspected based on clinical features and increased urinary bound sialic acid excretion and confirmed by genetic testing showing pathogenic variants in NEU1. We report a patient with type 1 sialidosis who presented mainly with ataxia and both generalized and myoclonic seizures but no visual involvement. Whole exome sequencing of the proband detected compound heterozygous likely pathogenic variants (S182G and G227R) in NEU1.

Citations

Mar 8, 2020·Journal of Clinical Medicine·Rosario MoscaAlessandra d'Azzo
May 27, 2020·Molecular Genetics & Genomic Medicine·Xiaoxu HanRuifang Sui
Jul 31, 2020·Orphanet Journal of Rare Diseases·Paldeep S AtwalPeter Milner
Jan 12, 2021·Movement Disorders Clinical Practice·Malco RossiBart van de Warrenburg
May 1, 2021·International Journal of Molecular Sciences·Binna SeolYee Sook Cho
Jul 4, 2021·Neurologic Clinics·Luis A MartinezAnne E Anderson

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

Xome Analyzer

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