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Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family

Question Are there more effective systemic treatment options for ERBB2-negative metastatic breast cancer and active brain metastases?

Findings In this nonrandomized clinical trial of 47 patients treated with utidelone plus bevacizumab, the central nervous system objective response rate was 42.6% according to the Response Evaluation Criteria in Solid Tumors version 1.1. The safety profile of this treatment approach was manageable.

Meaning These findings suggest that combination therapy with utidelone plus bevacizumab is a potentially viable treatment for patients with ERBB2-negative metastatic breast cancer and active brain metastases.

How a faulty transport protein in the brain can trigger severe epilepsy

Citrate is essential for the metabolism and development of neurons. A membrane transport protein called SLC13A5 plays a central role in this process and has previously been linked to a particularly severe form of epileptic encephalopathy.

Building on data from the recently completed RESOLUTE and REsolution flagship projects, scientists at CeMM have comprehensively studied the function and structure of the membrane transporter SLC13A5, experimentally investigating 38 mutant variants.

Their findings, published in Science Advances, shed new light on the mechanisms of this disease and lay the foundation for further research into epilepsy and other disorders.

How the brain links unrelated events: New insights into the amygdala’s role in decision-making

Our brain makes decisions based on direct associations between stimuli in our environment, but it often also does so based on events that initially appear unrelated. How does it achieve this? A recent study by the Cellular Mechanisms in Physiological and Pathological Behavior Research Group at the Hospital del Mar Research Institute, published in Proceedings of the National Academy of Sciences, offers new insights into this process and identifies the brain areas involved.

Using observations in , led primarily by first author and Ph.D. student José Antonio González Parra and supervised by Dr. Arnau Busquets, the research team was able to determine the mechanisms involved in how the brain makes decisions based on indirect associations between different . That is, instead of directly associating a specific stimulus with a rewarding or aversive situation, the brain establishes connections between two or more stimuli.

Dr. Busquets explains, “The project aims to understand how the brain enables us to make decisions based on indirect relationships between stimuli in our environment.”

Injury to specific brain connections could explain some people’s criminal behavior, study finds

Over the past decades, some lawyers have started using brain imaging scans as evidence during criminal trials, to provide a possible explanation for the criminal behavior of defendants. This was justified by recent neuroscientific studies, which found that some people who commit crimes present differences in specific parts of the brain. Yet a key question remains: are these brain changes causal, compensatory or incidental to the behavior?

To answer this question, researchers at Brigham and Women’s Hospital, Harvard Medical School and other institutes in the U.S. analyzed the locations of brain injury temporally associated with a new onset of criminality.

They found evidence suggesting that lesions to a specific white matter tract could be causally implicated in the behavior of individuals who start committing crimes after injury.

Can A Brain Be Preserved And Uploaded? Neuroscientist Survey Reveals “Surprising” 40 Percent Probability That Yes, It Could

“That’s a substantial chunk of neuroscientists who think there’s a very real chance that it will work,” said neuroscientist Dr Ariel Zeleznikow-Johnston to IFLScience.

Heavy Drinkers Face Higher Risk of Brain Lesions And Alzheimer’s Markers

Alcohol is notoriously bad for health, and a recent study might add “long-term effects on brain health” to the growing list of ways drinking can cause harm.

The research, led by scientists at the University of São Paulo in Brazil, investigated the impact of regular drinking by examining brain autopsy data from 1,781 individuals, correlating findings with their reported drinking habits.

After adjusting for sociodemographic and clinical variables, like smoking and physical activity, the team found that the heaviest drinkers had a 133 percent higher risk of developing vascular brain lesions compared to non-drinkers.

Creatine monohydrate pilot in Alzheimer’s: Feasibility, brain creatine, and cognition

Preclinical studies suggest that creatine monohydrate (CrM) improves cognition and Alzheimer’s disease (AD) biomarkers. However, there is currently no clinical evidence demonstrating the effects of CrM in patients with AD.

Diabetes drug may serve as alternative treatment option for hydrocephalus

A drug commonly used to treat type 2 diabetes may reduce excess fluid in the brains of patients with hydrocephalus, which could help treat the disease less invasively than current treatments, according to a Northwestern Medicine study published in the Journal of Clinical Investigation.

Stephen Magill, MD, Ph.D., assistant professor of Neurological Surgery, was senior author of the study.

Normal pressure occurs when excess cerebrospinal fluid builds up inside the skull and puts pressure on the brain. The cause of the condition is elusive and affects up to 3% of individuals over the age of 65, with symptoms including , difficulty walking and bladder problems.