Mutations in the EPG5 gene, a key regulator of cellular recycling via autophagy, have been linked to various neurological conditions, as demonstrated by an international research team. Their study, which analyzed 211 patients from 147 families, indicates that the same genetic defect can cause both rare early childhood disorders like Vici syndrome and later-onset neurodegenerative diseases such as parkinsonism. Different mutation types influenced disease severity, with truncating mutations causing more severe forms. Imaging studies revealed typical brain abnormalities and movement symptoms, emphasizing the critical role of EPG5 in both childhood development and aging-related neurodegeneration.
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