Sialidosis: pathology

Evidence-based neurology checklist on sialidosis: pathology: Genetics This is caused by mutations in the neuraminidase (NEU 1, sialidase) gene This results in alpha neuraminidase deficiency The transmission is autosomal recessive Classification Synonyms

Genetics

  • This is caused by mutations in the neuraminidase (NEU 1, sialidase) gene
  • This results in alpha neuraminidase deficiency
  • The transmission is autosomal recessive

Classification

Synonyms

References

  1. 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.
  2. 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. 
  3. Franceschetti S, Michelucci R, Canafoglia L, et al. Progressive myoclonic epilepsies: definitive and still undetermined causes. Neurology 2014; 82:405-411.
  4. Khan A, Sergi C. Sialidosis: a review of morphology and molecular biology of a rare pediatric disorder. Diagnostics (Basel) 2018; 8:29.
  5. 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.

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