Lafora disease (LD) is both a fatal childhood epilepsy and a glycogen storage disease caused by recessive mutations in either the Epilepsy progressive myoclonus 2A (EPM2A) or EPM2B genes. Hallmarks of LD are aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) that are a disease driver. The 5th International Lafora Epilepsy Workshop was recently held in Alcala de Henares, Spain. The workshop brought together nearly 100 clinicians, academic and industry scientists, trainees, National Institutes of Health (NIH) representation, and friends and family members of patients with LD. The workshop covered aspects of LD ranging from defining basic scientific mechanisms to elucidating a LD therapy or cure and a recently launched LD natural history study.
|Journal||Epilepsy and Behavior|
|State||Published - Feb 2020|
Bibliographical noteFunding Information:
Lafora disease (LD) is a fatal, autosomal recessive glycogen storage disease that results in progressive neurodegeneration with epilepsy, dementia, and myoclonus [ 1–3 ]. Patients present with an epileptic event in their early to mid-teen years, and these episodes along with the cognitive decline and myoclonus progressively increase until death approximately 10 years later because of respiratory complications, sudden unexpected death (SUDEP), or a massive epileptic event [ 4 , 5 ]. The National Institutes of Neurological Disease and Stroke (NINDS) of the National Institutes of Health (NIH) funded a program project grant in 2016 bringing together the top LD laboratories to define the basic mechanisms of LD and develop therapeutic options [ 2 , 6 , 7 ]. This grant established the Lafora Epilepsy Cure Initiative (LECI) that is directed by Dr. Matthew Gentry, Professor at the University of Kentucky College of Medicine ( Fig. 1 ). The LECI is comprised of researchers at University of Kentucky, Indiana University, University of Texas-Southwestern, UC-San Diego, Fundación Jimenez Díaz (Madrid), Institute for Research in Biomedicine (Barcelona), and Institute of Biomedicine of Valencia (IBV-CSIC).
Research reported in this publication was supported by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health under Award Numbers R01NS070899 (MSG) and P01NS097197 (MSG), the Spanish Ministry of Education and Science Award Number SAF2017-83151-R (PS), a grant from the Fundacion Ramon Areces CIVP18A3935 (PS), Spanish MINECO BFU2017-84345-P (JJG), Valerion Therapeutics (MSG), and Ionis Pharmaceuticals . We thank Ms. Cheylene Plummer at the University of Kentucky College of Medicine for logistical support and planning the event. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
The 5th International Lafora Epilepsy Workshop was held at the Parador in Alcala de Henares, Spain on September 8–11, 2019. The workshop was organized and hosted by Drs. Jose Serratosa (Fundación Jimènez Díaz, Madrid, Spain) and Matthew Gentry; and it was sponsored by NINDS (P01 NS097197), Ionis Pharmaceuticals, Valerion Therapeutics, Maze Therapeutics, Chelsea's Hope, and the University of Kentucky College of Medicine. The workshop is a unique blend of clinicians; scientists from academia, industry, and the NIH; trainees; friends and family members of patients with LD; and a patient with LD with approximately 100 representatives from the United States, Spain, Canada, Israel, Hungary, Slovakia, Russia, Honduras, Turkey, India, Italy, France, Australia, and the Netherlands ( Fig. 2 ). The singular goal of this diverse group is to accelerate LD research to bring a LD therapy or cure to patients.
© 2019 Elsevier Inc.
- Glycogen storage disease
- Lafora disease
- Progressive myoclonus epilepsy
ASJC Scopus subject areas
- Clinical Neurology
- Behavioral Neuroscience