Brain ventricles as windows into brain development and disease

Article Neurosciences

Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience

Helen Rankin Willsey et al.

Summary: Gene Ontology analyses have repeatedly identified synaptic function and transcriptional regulation as key points of convergence in autism spectrum disorders (ASD) risk genes. Leveraging Xenopus tropicalis, a study of ten genes associated with ASD found that mutations led to an increase in neural progenitor cells, implicating cortical neurons in ASD vulnerability and expanding the range of convergent functions to include neurogenesis. Systematic chemical screening identified estrogen, through Sonic hedgehog signaling, as a resilience factor that may mitigate a range of ASD genetic risks in Xenopus and human brain models.

NEURON (2021)

添加到收藏夹

Review Neurosciences

PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets

Tyrone DeSpenza et al.

Summary: Research suggests that there is shared molecular pathophysiology between autism spectrum disorder (ASD) and congenital hydrocephalus (CH), with the PTEN-PI3K-mTOR pathway potentially serving as a common underlying mechanism for these two conditions. This provides diagnostic, prognostic, and therapeutic promise for individuals with ASD and CH.

TRENDS IN NEUROSCIENCES (2021)

添加到收藏夹

Review Neurosciences

Brain ventricular volume changes in schizophrenia. A narrative review

Patrik Svancer et al.

Summary: This mini-review presents evidence on brain ventricle changes in schizophrenia, covering high-risk subjects to chronic patients, and the relationship between ventricle changes and level of psychopathology. The potential pathophysiological background of ventricle changes is discussed, offering insights into the proportion of neurodegenerative and neurodevelopmental processes in the pathophysiology of schizophrenia.

NEUROSCIENCE LETTERS (2021)

添加到收藏夹

Article Biochemistry & Molecular Biology