Journal
JOURNAL OF CHILD NEUROLOGY
Volume 30, Issue 14, Pages 1954-1962Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073815600870
Keywords
magnetic resonance imaging; mouse models; mechanistic target of rapamycin; Purkinje cell; cerebellum
Categories
Funding
- National Institutes of Health [U01 NS082320, P20 NS080199, P30 HD018655]
- Department of Defense
- Tuberous Sclerosis Alliance
- Autism Speaks
- Nancy Lurie Marks Family Foundation
- Simons Foundation
- Harvard Stem Cell Institute
- Boston Children's Hospital Translational Research Program
- Novartis
- Shire
- NCATS
- National Institute of Mental Health
- National Institute of Neurological Disorders and Stroke
- National Institute of Child Health and Human Development
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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.
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