Division of Neurology, Department of Paediatrics, and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto Canada, Institute of Medical Sciences, University of Toronto, University of Toronto Michael Bahen Chair in Epilepsy Research
In 1911, the Spanish neurologist-pathologist Gonzalo Lafora, working at the then Government Hospital for the Insane in Washington DC, first described the progressive myoclonus epilepsy that would later bear his name (Lafora, 1911). The journey to understand this disease started with Lafora’s detailed neuropathological description of the large and profuse inclusions (Fig. 1) that would come to be known as Lafora bodies. The odyssey has visited many a shore, and the latest and most mysterious is revealed by Javier Gayarre et al. (2014) in this issue of Brain.
Lafora bodies as drawn by Lafora in his original manuscript (Lafora, 1911).
Whereas the ‘amyloid’ plaques of Alzheimer’s disease are not in fact amyloid (starch), Lafora bodies, by contrast, are. Lafora bodies are composed of hyperphosphorylated and malformed glycogen molecules. These abnormal starch-like polyglucosans aggregate to form insoluble masses, which over time accumulate inside neuronal somata and dendrites.
Lafora disease is caused by loss-of-function mutations in …