Gaucher's disease: pathology and classification

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Gaucher's disease: pathology and classification. This is the commonest lysosomal storage disease. Fully referenced neurology checklist.

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

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References

  1. 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. 
  2. Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
  3. 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.
  4. Neumann J, Bras J, Deas E, et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009; 132:1783-1794.

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