Focal epilepsy expands the phenotype of FUS-associated amyotrophic lateral sclerosis.

Abstract excerpt

Epileptic seizures are an exceedingly rare manifestation in classic amyotrophic lateral sclerosis (ALS). Emerging case reports suggest a potential link between ALS associated with FUS gene mutations (FUS-ALS) and seizures, expanding the disease's phenotypic spectrum. A 25-year-old man presented with a 5-month history of rapidly progressive limb weakness, atrophy, and both upper and lower motor neuron signs,...

Topics

• Humans
• Amyotrophic Lateral Sclerosis
• RNA-Binding Protein FUS
• Male
• Phenotype
• Adult
• Epilepsies, Partial