Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes

Parkinsonism in childhood and adolescence is a clinically and genetically heterogeneous condition, often occurring in the setting of complex neurodevelopmental or neurodegenerative disorders. While the association between parkinsonism and psychiatric features has been well characterized in adulthood, it still represents a poorly investigated field in childhood. Moreover, the association of parkinsonism and catatonic features is anecdotal.Here we report about a girl with co-occurring SYNJ1 and SHANK3 variants presenting with intellectual disability, early-onset parkinsonism and catatonic episodes.