How a Cellular “Recycling” Gene Connects Childhood Syndromes and Parkinson’s

Mutations in EPG5 are linked to both neurodevelopmental and neurodegenerative disorders.

Studied 211 patients from 147 families for EPG5-related diseases.

Vici syndrome is a severe condition associated with EPG5 mutations.

Truncating mutations lead to more severe symptoms.

Imaging reveals characteristic brain abnormalities.

Defects in the PINK1–Parkin pathway affect mitochondrial clearance.

Animal studies confirm movement issues in Epg5 mutant mice.