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Spectrum: Autism Research News

Tag: tuberous sclerosis

June 2013
A digitally created abstract mosaic.

Mouse model mimics mosaic mutation in tuberous sclerosis

by  /  3 June 2013

Deleting both copies of a gene linked to tuberous sclerosis complex, an autism-related disorder, in only a subset of brain cells recapitulates many of the disorder’s symptoms in mice, according to a study published 9 May in Neuron.

February 2013

The 2003 paper proposing signaling imbalance in autism

by ,  /  26 February 2013

In 2003, John Rubenstein and Michael Merzenich first described the theory, now popular in autism, that the disorder reflects an imbalance between excitation and inhibition in the brain. Takao K. Hensch and Parizad M. Bilimoria review the paper and its impact on the field.

December 2012

Cognition and behavior: Slow response to faces seen in TSC

by  /  14 December 2012

Children with the autism-related disorder tuberous sclerosis complex show sluggish brain activity in response to images of faces, according to a study published 8 November in the Journal of Child Neurology.

October 2012

Researchers swing toward monkey models of autism

by  /  18 October 2012

Researchers in Japan have completed the first step in creating transgenic monkey models of autism, according to a poster presented Wednesday at the 2012 Society for Neuroscience annual meeting in New Orleans.


Autism mouse models show glitch in motor learning

by  /  16 October 2012

Two well-known mouse models of autism show abnormal reactions to an eye-blinking test that relies on the cerebellum, a brain region that helps integrate sensory information and plan movements. The unpublished results were presented in a poster Monday at the 2012 Society for Neuroscience annual meeting in New Orleans.

August 2012

Cognition and behavior: Connectivity deficits link autism, TSC

by  /  7 August 2012

Abnormalities in the connections between language-related brain regions are similar in people with autism and those with tuberous sclerosis, a genetic disorder characterized by benign tumors throughout the brain and body, according to a paper published 1 June in Cerebral Cortex.

July 2012

Tuberous sclerosis gene loss triggers autism-like features

by  /  26 July 2012

Losing one or both copies of TSC1, one of the two genes responsible for tuberous sclerosis complex, in specific cells of the cerebellum can trigger several autism-like behaviors in mice, according to research published 1 July in Nature.


Insights for autism from tuberous sclerosis complex

by  /  24 July 2012

Studying tuberous sclerosis provides researchers with a unique opportunity to find a common pathway among the various genetic causes of autism, says neurologist Mustafa Sahin.

March 2012

RAS pathway, a potentially unifying theory of autism

by  /  13 March 2012

Dysregulation of the intracellular signaling pathway RAS, a risk factor for idiopathic autism, may provide a unifying theory of the disorder. Although this is not an altogether new hypothesis, several new findings have strengthened the evidence for it considerably.

December 2011

The year in review

by  /  23 December 2011

The ten notable papers picked by SFARI staff describe superb contributions that span the breadth of autism research from molecules to behavior. But we recognize that ten other articles might have been selected without loss of enthusiasm or excitement.