Research Articles

Lafora Research Article (Sep, 2013)
Background: Lafora disease (LD) is the major teenage-onset progressive myoclonus epilepsy (PME). Insidious cognitive decline and escalating myoclonic, visual, convulsive, and other seizures follow an initial decade of normal development…read more

Inhibiting Glycogen Synthesis Prevents Lafora Disease in a Mouse Model (Aug., 2013)
Background:Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration. . . .read more

Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-Deficient Lafora Disease (Jun. 5, 2012)
Background: Laforin deficiency causes glycogen hyperphosphorylation, which converts glycogen to aggregate-prone poorly branced polyglucosans.. . . .read more

Glycogen and its metabolism: some new developments and old themes (Oct. 18, 2011)
Glycogen is a branched polymer of glucose that acts as a store of energy in times of nutritional sufficiency for utilization in times of need.. . .read more

Phosphorylation Prevents Polyglucosan Transport in Lafora Disease (Oct. 17, 2011)
Neuronal distal axons have limited access to glucose, their myelin sheaths preventing direct interface with blood, and their axoplasms being at great distances from their cell bodies . .read more

High Hopes for Future Treatment of Lafora Disease (May 27, 2011)
Lafora disease is a severe form of epilepsy which affects teenagers.

Seizures and cramps are accompanied by progressive dementia and lead to death at the age of around 25. Currently, there is no cure for this illness. A new study shows that mice with Lafora disease can be rescued by knocking out a specific gene, providing hope for a human treatment. . . .read more

Exciting Possible Scientific Breakthrough from Dr. Berge Minassian (May, 2011)
The article is certainly the most positive to date about controlling LD. Some of you might remember him mentioning at our annual fundraising of a possible good result in one animal, that needed confirmation. IT WORKED! In the simplest form and to the best of a parent’s understanding, the article says that by inhibiting PTG (protein targeting glycogen synthase), the glycogen concentrations in the brain are reduced (but not completely eliminated) and, most importantly, a dramatic reduction of the production of Lafora bodies occurs in brain, liver, and the skeleton muscle. . . .read more

PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease (Apr. 28, 2011)
Lafora disease is the most common teenage-onset neurodegenerative disesase, the main teenage-onset form of progressive myclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates in neuronal cell bodies and overtakes neuronal small processes, mainly dendrites. read more

Phosphate Incorporation during Glycogen Synthesis and Lafora Disease (Mar. 2, 2011)
Glycogen is a branched polymer of glucose that serves as an energy store. Phosphate, a trace constituent of glycogen, has profound effects on glycogen structure, and phosphate hyperaccumulation is linked to Lafora disease, a fatal progressive myoclonus epilepsy that can be caused by mutations of laforin, a glycogen phosphatase. read more

Glycogen Synthase: An Old Enzyme with a New Trick (Mar. 2, 2011)
Phosphorylation of glycogen has been known for decades; however, the basic metabolic pathways responsible for this modification are unknown. In this issue, Tagliabracci et al. (2011) report the enzyme responsible for incorporating phosphate and the chemical nature of the phosphate linkage, providing a framework for expanding our understanding of a devastating form of epilepsy. read more

Research Update from Dr. Escueta (June 2010)
Dr. Antonio Delgado-Escueta’s team continues to maintain the Lafora disease mouse colony at the VA Medical Center in West Los Angeles. This mouse model continues to be used to improve our understanding of the disease mechanisms of Lafora epilepsy and can also be used for drug trials and gene replacement therapy. . .read more

We have two aims in our lab. 1) Understanding how Lafora bodies form. 2) Finding a way to get rid of them. (September, 2009)
When you look in the brain of a patient who dies of Lafora disease, you see in the vast majority of synapses (the place where one neuron (brain cell) talks to another) these ugly accumulations of starch-like compounds (polyglucosans/Lafora bodies) . . .read more

Laforin, the most common protein mutated in Lafora disease, regulates autophagy (May 7, 2010)
Lafora disease (LD) is an autosomal recessive, progressive myoclonus epilepsy, which is characterized by the accumulation of polyglucosan inclusion bodies, called Lafora bodies, in the cytoplasm of cells in the central nervous system and in many other organs. read more

Dr. Antonio V. Delgado-Escueta and his team are developing two treatment approaches, including 1) gene therapy for all Lafora disease patients, and 2) gentamicin treatment for those patients with nonsense mutations. (Jan. 4, 2009)

1) Gene therapy
The stellate electroencephalography (EEG) machine arrived on November 19, 2008, and the team started EEG recordings on mice the same afternoon. With the new EEG machine, Dr. Escueta now has the capability to monitor the effects of gene therapy on seizures and epileptic form discharges. Expenses include supplies for the EEG machine, a new stereotactic apparatus to measure exact electrode placement, and monthly costs for the mice colony . . .read more