Journal
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
Volume 53, Issue -, Pages 838-851Publisher
WILEY
DOI: 10.1111/j.1365-2788.2009.01208.x
Keywords
autism; behavioural measurement methods; behavioural phenotypes; genotype; learning disability; tuberous sclerosis
Funding
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS038480] Funding Source: NIH RePORTER
- NINDS NIH HHS [R01 NS038480, R01 NS038480-04] Funding Source: Medline
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Background Tuberous sclerosis (TSC) is a multi-system disorder caused by heterozygous mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. Method Here, we review evidence from animal models of TSC for the role of specific molecular and cellular processes in the pathogenesis of cognitive, developmental and epilepsy-related manifestations seen in the disorder. Results Recent evidence shows that, in animal models, disinhibited mTOR (mammalian target of rapamycin) signalling substantially contributes to neuropsychiatric phenotypes, including cognitive deficits and seizures. We discuss potential pathogenetic mechanisms involved in the cognitive phenotypes of TSC and present implications regarding mTOR inhibitor-based treatments for TSC-related neuropsychiatric features. Conclusions Results suggest that reversing the underlying molecular deficits of TSC with rapamycin or other mTOR inhibitors could result in clinically significant improvements of cognitive function and neurological symptoms, even if treatments are started in adulthood.
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