Sialidosis: clinical features
Evidence-based neurology checklist on sialidosis: clinical features: Clinical features of Sialidosis type I Gait impairment Visual failure Visual field defects Macular cherry-red spot Action myoclonus Ataxia Spasticity Seizures Clinical features of Sialidosis type II Clinical features of adult…
Clinical features of Sialidosis type I
- Gait impairment
- Visual failure
- Visual field defects
- Macular cherry-red spot
- Action myoclonus
- Ataxia
- Spasticity
- Seizures
Clinical features of Sialidosis type II
Clinical features of adult onset Sialidosis
Differential diagnosis of cherry red macula spot
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.
- Sobral I, Cachulo Mda L, Figueira J, Silva R. Sialidosis type I: ophthalmological findings. BMJ Case Rep 2014; 2014: bcr2014205871.
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