Lafora bodies

Lafora’s disease (LD) is an autosomal recessive and fatal form of epilepsy with onset in late childhood or adolescence. One of the characteristic features of LD pathology is the presence of periodic acid-Schiff (PAS) positive Lafora inclusion bodies.

Lafora bodies are present primarily in neurons, but they have also been found in other organs. Histochemical and biochemical studies have indicated that Lafora bodies are composed mainly of polysaccharides.

Synopsis

 Lafora disease is distinguished by the presence of inclusions called "Lafora bodies" within the cytoplasm of cells.
 Lafora bodies are composed of abnormal glycogen called "polyglucosan". These starch-like polyglucosans are insoluble and hence precipitate inside cells.
 Polyglucosan bodies appear with age; in Lafora disease, their numbers have increased enormously.
 Lafora bodies have been observed in virtually all organs of patients with the disease.
 In the brain, their presence appears to be restricted to neurons; they do not seem to present in astrocytes.
 Their morphology varies from tissue to tissue, but they generally contain a central core and have a peripheral fluffy appearance

Etiology

 Lafora disease

Differential diagnosis

 Lafora-like bodies

References

 Ganesh S, Tsurutani N, Suzuki T, Hoshii Y, Ishihara T, Delgado-Escueta AV, Yamakawa K. The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. Biochem Biophys Res Commun. 2004 Jan 23;313(4):1101-9. PMID: 14706656

 Hashimoto K, Hoshii Y, Takahashi M, Mitsuno S, Hanai N, Watanabe Y, Ishihara T. Use of a monoclonal antibody against Lafora bodies for the immunocytochemical study of ground-glass inclusions in hepatocytes due to cyanamide. Histopathology. 2001 Jul;39(1):60-5. PMID: 11454045