22q11.2 deletion syndrome (22q) raises schizophrenia risk through skull malformations linked to the Tbx1 gene, affecting cerebellar development. This highlights how non-brain factors like bone defects can influence neurological disorders.

The chromosomal disorder 22q11.2 deletion syndrome (22q) has emerged as one of the strongest risk factors for schizophrenia. Scientists at St. Jude Children’s Research Hospital identified malformed regions of the cerebellum in both laboratory models and patients with 22q, attributing these malformations to improper skull formation.

Additionally, the researchers linked the skull malformation to the loss of a single gene: Tbx1. This research highlights that neurological disorders can arise from sources outside the nervous system, such as defects in skull development. The findings were published in Nature Communications.

Because glucose metabolism is disrupted in several different neurodegenerative disorders, this treatment strategy also shows promise for other brain conditions.

“The beneficial effect on brain metabolism by IDO1 inhibition cuts across different types of pathology,” Andreasson said.

“It is exciting to think that this may be a more general mechanism that could be targeted in other neurodegenerative disorders, like Parkinson’s disease, where you have accumulation of a-synuclein, or ALS, where there is accumulation of tdp-43.”

Summary: SUMO proteins play a key role in activating dormant neural stem cells, vital for brain repair and regeneration. This finding, centered on a process called SUMOylation, reveals how neural stem cells can be “woken up” to aid in brain recovery, offering potential treatments for neurodegenerative diseases.

SUMO proteins regulate neural stem cell reactivation by modifying the Hippo pathway, crucial for cell growth and repair. The study’s insights lay foundational groundwork for developing regenerative therapies to combat conditions like Alzheimer’s and Parkinson’s disease.

Brain edema can accompany large ischemic strokes and can increase stroke-related morbidity and mortality. The past few decades have seen no advances in pharmacologic treatment of brain edema. These investigators conducted a manufacturer-funded, randomized, placebo-controlled trial of glibenclamide, a sulfonylurea 1–receptor inhibitor that can decrease brain edema. (Glibenclamide is approved to treat type 2 diabetes.) In a previous study, it was associated with fewer deaths from neurologic causes, but its use in patients with stroke is not widespread.

Eligible patients had large ischemic strokes that could be treated within 10 hours of onset. A large hemispheric infarct in at least the middle cerebral artery territory was defined as either an Alberta Stroke Program Early CT Score of 1 to 5 or lesion volumes of 80 mL to 300 mL on computed-tomography perfusion or diffusion-weighted imaging. Glibenclamide (8.6 mg) was given to half the study participants intravenously over 72 hours.

The study was halted early due to underenrollment. Of 535 enrolled patients, 431 were in the intended age range (18–70) and had complete data (mean age, 58; 33% women; median NIH Stroke Scale [NIHSS] score, 19). Treatment began at an average of 9 hours after symptom onset. No favorable shift with glibenclamide occurred on the primary outcome, the 90-day modified Rankin Scale (mRS). Mortality was similar in the two groups (glibenclamide, 32%; placebo, 29%). Hypoglycemia was seen in 6% of glibenclamide recipients and 2% of placebo recipients. Subgroup analysis revealed a signal of potential benefit with glibenclamide in patients with NIHSS scores of 20 or less.