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

12 Jan 2018

Abstract excerpt

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...

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PMID: 30023283
DOI: 10.1016/j.ymgmr.2017.12.005

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