Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders.

A recent study has found that mutations in the EPG5 gene are associated with a wide range of neurodevelopmental and neurodegenerative disorders. The study examined the genetic, clinical, neuroradiological, and pathological features of the largest cohort of EPG5-related disorders to date. The associated phenotypic spectrum varied from severe multisystem neurodevelopmental disorders to milder neurodevelopmental disorders with less specific manifestations. The study also found a correlation between predicted residual EPG5 expression and clinical severity. These findings suggest a continuum of disease that overlaps with other disorders of defective autophagy and intracellular trafficking, highlighting the importance of dysfunctional autophagy in the pathophysiology of common neurodegenerative disorders. [Extracted from the article]