Buoni S, Sorrentino L, Farnetani MA, Pucci L, Fois A
Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T
Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, Maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, DeLong GR, Pericak-Vance MA
Rineer S, Finucane B, Simon EW
Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A.,Cuccaro, M., Simensen, R. J., Bishop, J., et al.
Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G
Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E
Autism Spectrum Disorder (ASD) includes a spectrum of genetically and clinically complex neurodevelopmental disorders. Findings from recent discordant monozygotic twins and post-mortem brain studies suggest that altered epigeneticprocesses, including DNA methylation and histone acetylation, are involved in the etiology of ASD. This study presents, to our knowledge, the largest post-mortem genome-wide DNA methylation analyses of autism patients, including idiopathic ASD and chromosome 15q11.2-13.1 duplication syndrome (dup15q) carriers, and matched controls.
A puzzling observation in the study of autism spectrum disorder (ASD) in mouse models has been the deregulation of long-term synaptic depression (LTD), a form of experience-dependent synaptic plasticity, across brain areas and across syndromic and non-syndromic forms of autism. This review attempts to approach this phenomenon from a largely, but not exclusively, cerebellar perspective. Three potential consequences of LTD deregulation are discussed that are relevant for ASD phenotypes: resulting impairment of proper developmental synaptic pruning, impairment of motor coordination and motor learning, and impairment of the processing sensory input.
Neurodevelopmental disorders (NDDs) are multifactorial diseases involving complex interactions between the environment and genetics. The prenatal period is recognized as one of the most sensitive stages for normal nervous system development.