Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP). At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for approximately 90% of GFAP protein.
Slide of the Week
Jan Greenberg, PhD – Slide of the Week
Expressed emotion (EE) is a measure of the family’s emotional climate and has been shown to be associated with a range of symptoms and psychiatric outcomes in individuals with various disabilities. In addition, growing evidence suggests that high levels of family distress are associated with high EE.
H. Hill Goldsmith, PhD – Slide of the Week
We used Latent Profile Analyses to derive four profiles of infant temperament from 990 twins at 6 and 12 months of age using observed infant behavior. Parents reported on their own emotional experiences.
David Gamm, MD, PhD – Slide of the Week
Loss of photoreceptors through disease or injury is a leading cause of vision loss. Emerging stem cell-based strategies aimed at treating these conditions would benefit from an improved understanding of the complex gene-expression patterns directing photoreceptor development.
Peter Ferrazzano, MD – Slide of the Week
By identifying MRI biomarkers in animal models of pediatric brain injury, Waisman investigator Peter Ferrazzano hopes to provide a means for selecting the patients most likely to benefit from a particular neuroprotective intervention in subsequent clinical trials.
Susan Ellis Weismer, PhD – Slide of the Week
In typical development, listeners can use semantic content of verbs to facilitate incremental language processing-a skill that is associated with existing language skills. Studies of children with ASD have not identified an association between incremental language processing in semantically-constraining contexts and language skills, perhaps because participants were adolescents and/or children with strong language skills.
Viji Easwar, PhD – Slide of the Week
EEG is currently the only clinically feasible method to evaluate hearing in infants and children who are unable to participate in behavioral hearing tests. We modified naturally spoken vowels and fricatives to elicit envelope following responses (EFR) at low, mid and high frequencies–the prime spectral regions essential for speech understanding, and speech and language development.
Darcie Moore, PhD – Slide of the Week
Neurogenesis is thought to be sustained throughout life through the constant regulation of neural stem cell (NSC) quiescence exit, a time in which a NSC enters the cell cycle to generate more neural stem cells and/or other neural cell types. One critical component of NSC quiescence exit is the clearance of aggregated proteins.
Qiang Chang, PhD – Slide of the Week
Rett syndrome (RTT) is a severe neurodevelopmental disease caused by mutations in the methyl-CpG binding protein 2 (MECP2) gene. Although altered interneuron development and function are clearly demonstrated in RTT mice, a particular mode of inhibition, tonic inhibition, has not been carefully examined.
Doug Dean, III, PhD – Slide of the Week
White matter microstructure, essential for efficient and coordinated transmission of neural communications, undergoes pronounced development during the first years of life, while deviations to this neurodevelopmental trajectory likely result in alterations of brain connectivity relevant to behavior. Hence, systematic evaluation of white matter microstructure in the normative brain is critical for a neuroscientific approach to both typical and atypical early behavioral development.