Gaucher's disease: pathology and classification
Evidence-based neurology checklist on gaucher's disease: pathology and classification: Genetics and pathology This is the commonest lysosomal storage disease It is caused by mutations in the glucocerebrosidase (GBA) gene The transmission is autosomal recessive There is accumulation of…
Genetics and pathology
- This is the commonest lysosomal storage disease
- It is caused by mutations in the glucocerebrosidase (GBA) gene
- The transmission is autosomal recessive
- There is accumulation of glucocerebroside (glucosylceramide)
- There are Gaucher cells (inclusions) in macrophages
Types
References
- Gary SE, Ryan E, Steward AM, Sidransky E. Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab 2018; 13:107-118.
- Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
- Aerts JM, Hollak C, Boot R, Groener A. Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Philos Trans R Soc Lond B Biol Sci 2003; 358:905-914.
- Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009; 132:1783-1794.
