Transcriptomic analysis of isolated human postmortem Purkinje neurons implicates developmental organization/connectivity, extracellular matrix organization, calcium ion response, immune function and signaling alterations in autism spectrum disorders

At present, the underlying neuronal mechanisms leading to an autism spectrum disorder (ASD) diagnosis have not been identified. However, studies from human postmortem ASD brains have consistently revealed disruptions in cerebellar circuitry, specifically with a reduction in Purkinje cell (PC) number and size. Alterations in cerebellar circuitry would have important implications for information processing within the cerebellum and affect a wide range of human motor and non-motor behaviors. Laser capture microdissection was performed to obtain pure PC populations from a cohort of postmortem control and ASD cases and transcriptional profiles were compared. Comparative gene expression profiling analysis of RNA-seq data from postmortem ASD Purkinje neurons compared to controls.