When gene replacement becomes a double-edged sword: Guardrails for precision neurotherapeutics in Lafora disease
Abstract
Lafora disease (LD) is a paradigmatic progressive myoclonus epilepsy characterized by adolescent onset, refractory seizures, action- and stimulus-sensitive myoclonus, cognitive decline, and premature death. The pathological hallmark of the disease is the slow accumulation of poorly branched, insoluble glycogen aggregates, known as Lafora bodies (LBs), which progressively disrupt neuronal metabolism, trigger neuroinflammation, and ultimately drive neurodegeneration [1,2]. Importantly, the clinical course of LD is typically stereotyped and slowly progressive, unfolding over several years with a relatively predictable trajectory [3].
Fields of Study & Subjects
Glycogen Storage Diseases and Myoclonus
Lysosomal Storage Disorders Research
Virus-based gene therapy research
Publication details
- Journal / source
- Neurotherapeutics
- Volume
- 23
- Issue
- 2
- Pages
- e00885–e00885
- Publication date
- 1 March 2026
- Language
- EN