Loss of one copy of TBR1, an autism-linked gene involved in fetal brain development, leads to brain malformations, according to a study published in the September issue of Molecular Syndromology.
An autism-linked protein called CASPR2 promotes the development of dendrites, the bushy structures atop neurons that receive signals from other neurons, according to a study published 30 October in Proceedings of the National Academy of Sciences. Lowering CASPR2 levels leads to sparse dendrites and few synapses, the junctions between neurons.
The loss of a 600-kilobase region on chromosome 16 leads to intellectual disability, obesity, a large head and, sometimes, autism, according to a study published in the October issue of the Journal of Medical Genetics.
Two new case studies highlight how complex rearrangements of chromosome 15 can lead to different disorders, including autism and the related Prader-Willi syndrome.
Mice missing the autism-linked gene CNTNAP2 have broad defects in their oxytocin system, according to research presented Tuesday at the Society for Neuroscience annual meeting in New Orleans. Treatment with oxytocin alleviates social deficits in these mice.
A cholesterol-lowering drug called lovastatin prevents seizures in mice that model fragile X syndrome, according to a poster presented Sunday at the 2012 Society for Neuroscience annual meeting in New Orleans.
Individuals with an extra copy of MeCP2, the gene mutated in Rett syndrome, have severe developmental delay accompanied by seizures, respiratory infections, poor motor skills and features of autism, according to two new case studies.
Mice that model Angelman syndrome or have a duplication of the 15q11-13 chromosomal region have aberrant brain levels of the chemical messenger serotonin, according to a study published 16 August in PLoS One.
Mutations in the CDKL5 gene lead to developmental delay starting at birth, seizures that begin before 3 months of age, and subtly atypical facial features, according to a study published 8 August in the European Journal of Human Genetics.
Sensory responses in the brain of an individual with autism vary much more than in someone without the disorder, according to a study published 20 September in Neuron. This may explain why some people with autism are extremely sensitive to lights and sounds.