Another recent study reported bi‐allelic variants in the vacuolar protein sorting‐associated protein 41 homolog gene (VPS41) in patients suffering from progressive neurodevelopmental disease comprising cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus due to lysosomal deregulation.23 Here, VPS41 is linked to cerebellar ataxia.