Publications by authors named "N C Schanen"
Introduction: Autism is diagnosed in numerous genetic and genomic developmental disorders associated with an overlap in high-risk genes and loci that underlie intellectual disability (ID) and epilepsy. The aim of this stereological study of neuronal soma volume in 25 brain structures and their subdivisions in eight individuals 9 to 26 years of age who were diagnosed with chromosome 15q11.2-13.
View Article and Find Full Text PDFRett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of all cases of RTT. A strategy to overcome disease-causing nonsense mutations is treatment with nonsense mutation suppressing drugs that allow expression of full-length proteins from mutated genes with premature in-frame stop codons.
View Article and Find Full Text PDFBackground: Autism is a neurodevelopmental disorder of unknown etiopathogenesis associated with structural and functional abnormalities of neurons and increased formation of reactive oxygen species. Our previous study revealed enhanced accumulation of amino-terminally truncated amyloid-β (Aβ) in brain neurons and glia in children and adults with autism. Verification of the hypothesis that intraneuronal Aβ may cause oxidative stress was the aim of this study.
View Article and Find Full Text PDFArticle Synopsis
- Chromosomal copy number variants (CNVs), particularly duplications on chromosome 15q, are linked to a higher risk of autism, with most clinically significant cases being maternally inherited.
- A study analyzed individuals with interstitial 15q duplications, identifying 10 maternal and 4 paternal cases, finding that maternal duplications were more associated with autism spectrum disorder.
- The findings showed that the size of the duplication did not correlate with autism severity, but several new phenotypes, such as mild facial differences, sleep issues, and a specific EEG pattern, were observed, supporting the role of the maternally expressed ubiquitin protein ligase E3A gene in the autism phenotype related to these duplications.
Background: It has been shown that amyloid ß (Aβ), a product of proteolytic cleavage of the amyloid β precursor protein (APP), accumulates in neuronal cytoplasm in non-affected individuals in a cell type-specific amount.
Methodology/principal Findings: In the present study, we found that the percentage of amyloid-positive neurons increases in subjects diagnosed with idiopathic autism and subjects diagnosed with duplication 15q11.2-q13 (dup15) and autism spectrum disorder (ASD).