Langerhans cell Histiocytosis (LCH) and Erdheim-Chester disease (ECD) are linked to certain genetic mutations and pose a heightened risk for neurodegeneration, revealing microglia mutant clones in patients' brains.
These mutant clones lead to symptoms like microgliosis and neuronal loss, notably affecting specific brain regions, with symptoms correlating to the disease's duration and the size of these clones.
Research suggests that targeting these mutant microglia with a CSF1R-inhibitor could prevent neuronal loss, presenting a potential new treatment option distinct from current MAPK inhibitors.
NORSE is a serious condition that affects otherwise healthy individuals, leading to prolonged seizures and often poor outcomes, and may be linked to immune system dysfunction.
Researchers used advanced RNA sequencing to analyze brain samples from patients with NORSE and compared them to those with chronic temporal lobe epilepsy (TLE) and healthy controls, looking for connections between brain activity and immune responses.
Findings showed that NORSE and TLE patients had more excitatory neurons than controls, and this imbalance, along with signs of active immune responses in the brain, suggests that inflammation may play a significant role in the heightened seizure activity in NORSE.
A study involving 20 COVID-19 cases identified cerebral microangiopathy in six patients, marked by changes in white matter and small artery diseases as seen on MRI.
The condition featured perivascular alterations such as vacuolization, macrophage clusters, and large axonal swellings, suggesting blood-brain barrier disruption without evidence of direct viral presence in the brain.
Detection of the SARS-CoV-2 spike protein in brain endothelial cells, particularly within the Golgi apparatus, indicates a unique interaction that might affect vascular permeability and contribute to long-term neurological effects of COVID-19.