Sialidosis: management
Evidence-based neurology checklist on sialidosis: management: Investigations Urinary sialic acid excretion: this is increased Neuraminidase in cultured fibroblasts: this is deficient Magnetic resonance imaging (MRI): this may show atrophy Genetic analysis Investigational treatments Synonyms
Investigations
- Urinary sialic acid excretion: this is increased
- Neuraminidase in cultured fibroblasts: this is deficient
- Magnetic resonance imaging (MRI): this may show atrophy
- Genetic analysis
Investigational treatments
Synonyms
References
- Canafoglia L, Robbiano A, Pareyson D, et al. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. Neurology 2014; 82:2003-2006.
- Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Molecular pathology of NEU 1 gene in sialidosis. Hum Mutat 2003; 22:343-352.
- Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
- Khan A, Sergi C. Sialidosis: a review of morphology and molecular biology of a rare pediatric disorder. Diagnostics (Basel) 2018; 8:29.
- Arora V, Setia N, Dalal A, et al. Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients. Mol Genet Metab Rep 2020; 22:100561.
