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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.

Author information

  • 1Brain and Mind Research Institute, Weill Cornell Medical College, New York, NY, 10065, USA, ans2055@med.cornell.edu.

Abstract

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.

PMID:
23703312
[PubMed]
PMCID:
PMC3795842
Free PMC Article
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