title: Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex.
abstract: Approximately 50% of patients with the genetic disease tuberous sclerosis complex present with autism spectrum disorder. Although a number of studies have investigated the link between autism and tuberous sclerosis complex, the etiology of autism spectrum disorder in these patients remains unclear. Abnormal cerebellar function during critical phases of development could disrupt functional processes in the brain, leading to development of autistic features. Accordingly, the authors review the potential role of cerebellar dysfunction in the pathogenesis of autism spectrum disorder in tuberous sclerosis complex. The authors also introduce conditional knockout mouse models of Tsc1 and Tsc2 that link cerebellar circuitry to the development of autistic-like features. Taken together, these preclinical and clinical investigations indicate the cerebellum has a profound regulatory role during development of social communication and repetitive behaviors.
authors: F.M. Kirby Neurobiology Center, Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.
authors: Maria
authors: M
authors: Sundberg
authors: F.M. Kirby Neurobiology Center, Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA mustafa.sahin@childrens.harvard.edu.
authors: Mustafa
authors: M
authors: Sahin
mesh_terms: D000818:Animals; D000067877:Autism Spectrum Disorder / Q000188:drug therapy / Q000473:pathology* / Q000503:physiopathology; D002531:Cerebellum / Q000187:drug effects / Q000254:growth & development* / Q000473:pathology* / Q000503:physiopathology; D058570:TOR Serine-Threonine Kinases / Q000378:metabolism; D014402:Tuberous Sclerosis / Q000188:drug therapy / Q000473:pathology* / Q000503:physiopathology
chemical_list: D058570:TOR Serine-Threonine Kinases
keywords: Purkinje cell; cerebellum; magnetic resonance imaging; mechanistic target of rapamycin; mouse models