The compulsion to carry out stereotypic motor routines is a hallmark of neuropsychiatric diseases like autism spectrum and obsessive-compulsive disorders and interferes with the ability to cope with everyday life. The generation of appropriate motor behaviors involves circuitry connecting cortical and striatal brain areas. However, the synaptic machinery necessary to maintain balanced cortico-striatal neurotransmission is still elusive. Recently, mutations in intersectin1 have been identified in patients with neurological symptoms including stereotypic behaviours. However, a causal relationship between intersectin and these symptoms has not been established. We show that deletion of intersectin1/2 in mice leads to stereotypic behaviour, morphological abnormalities and defective cortico-striatal neurotransmission and delineate a pathomechanism for the symptoms of patients carrying intersectin mutations.

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