Searching for ways out of the autism maze: genetic, epigenetic and environmental clues.

By A. Persico, Thomas Bourgeron. Trends in Neurosciences, 2006

600 citations recorded by the source corpus.

Our understanding of human disorders that affect higher cognitive functions has greatly advanced in recent decades, and over 20 genes associated with non-syndromic mental retardation have been identified during the past 15 years. However, proteins encoded by "cognition genes" have such diverse neurodevelopmental functions that delineating specific pathogenetic pathways still poses a tremendous challenge. In this review, we summarize genetic, epigenetic and environmental contributions to neurodevelopmental alterations that either cause or confer vulnerability to autism, a disease primarily affecting social cognition. Taken together, these results begin to provide a unifying view of complex pathogenetic pathways that are likely to lead to autism spectrum disorders through altered neurite morphology, synaptogenesis and cell migration. This review is part of the INMED/TINS special issue "Nature and nurture in brain development and neurological disorders", based on presentations at the annual INMED/TINS symposium (http://inmednet.com/).

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/dfa9eef4a81277a0af6fa8b194493ed415e5e864

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Citations in the corpus

Cognitive theories of autism (2007, background): “…a single gene disorder (Fragile X-syndrome) and autism, Belmonte and Bourgeron (2006) propose that complexities found within neuronal networks within even single gene disorders may enlighten us to the many possible routes in a multiple gene disorder like autism (see also Persico & Bourgeron, 2006).”
The autistic neuron: troubled translation? (2008, background): “The identification of ASD-linked mutations in the synaptic adhesion molecules neuroligins 3 and 4 has suggested that synaptic abnormalities play a central role in autism (Zoghbi, 2003; Persico and Bourgeron, 2006).”
Vision in autism spectrum disorders. (2009, background): “Pierce et al. (2004) found significant activations in what they argued was the FFA in their small sample of eight adults with ASD.”
Autism spectrum disorders: developmental disconnection syndromes (2007, background): “Connecting the neurobiological components that build and modify connectivity to the genetic etiologies of the autisms remains a significant challenge, in part owing to moderate-to-weak genetic associations, the likely involvement of multiple genes, and the difficulties of replication in heterogeneou”
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007, background): “None of our linkage results can be interpreted as ‘statistically signiﬁcant’ because we have performed numerous analyses of the data.”
Consensus Paper: Pathological Role of the Cerebellum in Autism (2012, background): “Hence, individuals carrying genetic variants expressing reduced amounts of reelin and PON1 enzyme, if exposed prenatally to OPs during critical periods in neurodevelopment, could be more likely to suffer from altered neuronal migration resulting in AD [230].”