Viet-Huong Nguyen1, Reyna M. Duron2, Iris E. Martinez-Juarez3, Douglas R. Nordli, III4, Maher Riad Arabi5, Deborah Holder6, Arthur Partikian7, Nancy McNamara8, Julia Henry4, Esther Tantsis9, Rene Silva Somoza10, Mitchell Williams11, Dawn Eliashiv12, Berge Minassian13, Jose Maria Serratosa Fernandez14, Antonio Delgado-Escueta15
1Chapman University School of Pharmacy, 2Universidad Tecnologica Centroamericana UNITEC, 3National Institute of Neurology & Neurosurgery, Mexico City, Mexico, 4University of Chicago, 5Comprehensive Epilepsy Program, Ibn Sina Hospital, Kuwait, 6Cedars Sinai Health System, 7Childrens Hospital Los Angeles, 8Corewell Health William Beaumont University Hospital, 9Childrens Hospital Westmead Australia, 10Hospital de Especialidades Nuestra Señora Reina de la Paz and Hospital Nacional San Juan de Dios, 11Children’s Hospital of Michigan, Department of Neurology, Detroit, 12UCLA, 13Univeristy of Texas Southwestern Medical Center, 14Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, 15Neurology, David Geffen School of Medicine, UCLA
Objective:
To describe the time course of the six clinical stages of Lafora Progressive Myoclonus Epilepsy
Background:
Lafora Progressive Myoclonic Epilepsy or Lafora Disease (LD) is ultra-rare with a prevalence of less than 1 in 10,000,000. Due to its rarity, the full course of the disease and time course of progression remain poorly characterized. Here we describe further refined criteria and detailed time-course for the six clinical stages of LD we have previously identified.
Design/Methods:
Twenty-five genetically confirmed EPM2A/EPM2B LD patients were followed in a prospective/ longitudinal observational cohort study. Outcomes were stratified by genotype and sibling-proband status.
Results:
Stage I is a pre-seizure stage where the patient appears asymptomatic. However, extended video-EEG and neuropsychological testing may reveal subtle abnormalities. Stage II occurs with the onset of seizures at a mean age of 10.2 years (SD 2.9) in the total cohort with siblings and EPM2A patients reporting slightly earlier onset (though not significantly different). Stage III occurs with beginning cognitive decline as reported by parents/teachers at age 13 (SD 1.4) and is not reliably detected by MoCA screening. Stage IV occurs at mean age of 15.7 years (SD 1.1) with the first episode of status epilepticus (SE) and when cognitive decline has progressed to established dementia (MoCA <23 for all patients, MoCA <21 for majority of patients). However, there is a subset of patients whose parents do not report any cognitive decline until after the first (SE). Stage V occurs at mean age 17.6 years (SD 1.4) when the patient enters a state of myoclonic encephalopathy. Stage VI occurs at mean age 19.5 years (SD 2.6) when the patient passes although this can be highly variable.
Conclusions:
We have established six clinical stages of LD and described time-course of progression, Notably, there a pre-seizure stage which may present with subtle symptoms and merits further investigation.
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