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Huntington's disease, cystic fibrosi s, and muscular dystrophy are all diseases that can be traced to a single mutation. Diagnosis in asymptomatic patient for these diseases is relatively easy -- You have the mutation? Then you are at risk. Complex diseases, on the other hand, do not have a clear mutational footprint. A new multi-institutional study by Japanese researchers shows a potential rare gene mutation that could act as a predictor for two neurodevelopmental disorders, schizophrenia and autism. "Aberrant synapse formation is important in the pathogenesis of schizophrenia and autism," says Osaka University Professor Toshihide Yamashita, one of the authors of the study. "Microglia contribute to the structure and function of synapse connectivities." Microglia are the only cells in the brain that express the receptor CX3CR1. Mutations in this receptor are known to affect synapse connectivity and cause abnormal social behavior in mice. They have also bee...

To better understand the root causes, a n international team led by researchers at OHSU in Portland, Oregon has applied a new systematic analysis to a cohort of 2,300 families who have a single child affected with autism. The study focused on identifying and characterizing low-lying genetic mutations that may have been missed in previous research, given these mutations are only present in a fraction of the bulk DNA of an individual. Known as postzygotic mosaic mutations, or PMMs, these genetic changes occur after the conception of the human zygote during the development cycle of a fetus. An individual will contain a mosaic -- or assortment -- of mutated and non-mutated cells with the level of mosaicism depending on the time and location of the mutation's occurrence. This emerging class of genetic risk factors has recently been implicated in various neurologic conditions, however, their role in more complex disorders, such as autism, has been unclear. Autism risk due to unexp...

Premature labour is associated with inflammation in the mother or baby, often due to infection. This can cause damage to the brain that could lead to lifelong conditions such as cerebral palsy, autism or learning or behavioural difficulties in up to 30 per cent of pre-term babies. Published in  Nature Communications , a new study investigated the role of microglial cells, which control the immune response in the brain, in responding to this inflammation. Researchers found a gene, known as DLG4, in these cells that is thought to be involved in controlling the inflammatory process. DLG4 is found in different forms in all humans but previously was thought only to play a role in the function of the nervous system. This new finding suggests it is also involved in the process of brain damage in some pre-term babies and may open doors for research into more effective treatments of these diseases. The study, which was a collaboration between King's , Inserm and Paris Diderot Univ...

This is the finding of a new study, published September 6 in  JAMA Psychiatry , which highlights evidence supporting the theory that common, underlying brain mechanisms may be responsible for autistic traits seen in both diagnoses. Led by researchers in the Department of Child and Adolescent Psychiatry at NYU School of Medicine, the new study focused on white matter -- nerve bundles that transmit information between brain regions. Researchers say the link between symptom severity and white matter structural patterns was most evident in the region of the brain called the corpus callosum, which connects the left and right cerebral hemispheres and enables communication between them. The fact that correlations could be found between ASD traits and white matter structure across diagnoses suggests shared disease mechanisms -- and the existence of biomarkers that could be used potentially to guide the design of more specific, future diagnostic tests and treatments. "It's im...

The researchers, headed by Xiaoqin Liu, have applied register-based research to the study of 905,383 children born between 1998 and 2012 with the aim of exploring the possible adverse effects of the mother's use of antidepressants during her pregnancy. They found that out of the 905,383 children in total, 32,400 developed a psychiatric disorder later in life. Some of these children were born to mothers who were on antidepressants during their pregnancy, while other children had not been exposed to medication. "When we look at children born to mothers who discontinued and continued antidepressant treatment during pregnancy, we can see an increased risk of developing a psychiatric disorder if the mothers continued antidepressant treatment while pregnant," says Xiaoqin Liu, who is the lead author of the article, which has just been published in  BMJ-British Medical Journal . More specifically, the researchers divided the children into four groups depending on the m...

In the study, children whose mothers took 800 or more micrograms of folic acid (the amount in most prenatal vitamins) had a significantly lower risk of developing autism spectrum disorder (ASD) -- even when their mothers were exposed to household or agricultural pesticides associated with increased risk. The study appears today in the journal  Environmental Health Perspectives . "We found that if the mom was taking folic acid during the window around conception, the risk associated with pesticides seemed to be attenuated," said Rebecca J. Schmidt, assistant professor in the Department of Public Health Sciences and first author on the paper. "Mothers should try to avoid pesticides. But if they live near agriculture, where pesticides can blow in, this might be a way to counter those effects." In the paper, which used data from the Childhood Autism Risks from Genetics and the Environment (CHARGE) study, researchers looked at 296 children between 2 and 5 who had...

Umeå University researchers, led by Hugo Lövheim at the Department of Community Medicine and Rehabilitation and the Unit of Geriatric Medicine, have launched a clinical study investigating the effect of herpes drugs on Alzheimer's disease. For four weeks, 36 people with Alzheimer's disease will be receiving treatment with Valaciklovir, a drug which specifically targets active herpes virus. Several investigations will be made before and after the treatment to measure the effects on fundamental Alzheimer's disease processes. Moreover, the participants will be examined with brain imaging, which together with a tracer substance accumulating in cells with active herpes virus infection could potentially detect herpes virus infection in brain cells in people with Alzheimer's disease. "I'm very excited about this study. In earlier population-based studies, we have seen that herpes virus infection increases the risk of Alzheimer's disease. It is very interestin...

"We found that deleting the gene for sorting nexin 27, or SNX27, which plays a major role in the development of Down's syndrome, causes hydrocephalus," said Huaxi Xu, Ph.D., the Jeanne and Gary Herberger Leadership Chair of SBP's Neuroscience and Aging Research Center. "The mechanism we uncovered likely only accounts for a fraction of hydrocephalus cases, but we identified potential non-surgical treatments for these cases that deserve further study." Hydrocephalus affects one or two of every 1,000 births. Some causes of hydrocephalus are known, including several well-characterized brain and skull malformations that block fluid outflow, but it can also arise in the absence of other obvious abnormalities. The condition is treated by surgically inserting a shunt to divert the fluid to another part of the body where it can be absorbed. However, these tubes can become infected, and about half the time, they fail, causing headaches, vomiting, fever, and irrita...

The scientists headed by Prof . Christian Haass and Prof. Michael Ewers were able to detect an increasing immune activity of the brain by measuring levels of the protein "TREM2" in the cerebrospinal fluid. TREM2 is segregated by certain immune cells of the brain -- called microglia -- and thus reflects their activity. In cases of the inherited form of Alzheimer's disease, the timing for the onset of dementia can be precisely predicted. The researchers were therefore able to monitor the rise of TREM2 levels years before the expected occurrence of dementia symptoms. "The activity of the microglia is stimulated by dying brain cells, not by the deposits of amyloid proteins, called plaques, which also occur in Alzheimer's disease," Haass notes. "The microglia may have a protective function, which however comes to a standstill as the disease progresses. We are therefore searching for drugs to increase the activity of the microglia." Part of the ...

University of Arizona researchers compared brain scans of young adult cross country runners to young adults who don't engage in regular physical activity. The runners, overall, showed greater functional connectivity -- or connections between distinct brain regions -- within several areas of the brain, including the frontal cortex, which is important for cognitive functions such as planning, decision-making and the ability to switch attention between tasks. Although additional research is needed to determine whether these physical differences in brain connectivity result in differences in cognitive functioning, the current findings, published in the journal  Frontiers in Human Neuroscience , help lay the groundwork for researchers to better understand how exercise affects the brain, particularly in young adults. UA running expert David Raichlen, an associate professor of anthropology, co-designed the study with UA psychology professor Gene Alexander, who studies brain aging a...