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Cerebellum. 2013 Dec;12(6):950-5. doi: 10.1007/s12311-013-0490-y.

Defining the role of cerebellar Purkinje cells in autism spectrum disorders.

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  • 1Brain and Mind Research Institute, Weill Cornell Medical College, New York, NY, 10065, USA,


Understanding the contribution of cerebellar dysfunction to complex neurological diseases such as autism spectrum disorders (ASD) is an ongoing topic of investigation. In a recent paper, Tsai et al. (Nature 488:647-651, 2012) used a powerful combination of conditional mouse genetics, electrophysiology, behavioral tests, and pharmacological manipulations to address the role of Tuberous sclerosis complex 1 (Tsc1) in Purkinje cells and cerebellar function. The authors make the staggering discovery that morphological and electrophysiological defects in Purkinje cells are linked to system-wide ASD-like behavioral deficits. In this journal club, I discuss the major findings of this paper and critically assess the implications of this seminal work.

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