SNCAIP

MONTREAL, Oct. 17, 2023 /PRNewswire/ -- During a plenary lecture at the 26th World Congress of Neurology, Dr. Anthony Lang, professor of neurology and Jack Clark Chair for Parkinson's Disease Research, University of Toronto, revealed a groundbreaking new model for identifying and studying Parkinson's disease. This new approach will help researchers investigate biological aspects of the disease that may be detectable many years before symptoms begin to show. The new model outlines three criteria for identifying Parkinson's disease based on distinct, measurable biological factors. Lang explained that this new biological model will allow doctors and researchers to understand Parkinson's in deeper and more complex ways than current clinical models, which are limited to observing symptoms in individual patients. "We believe this is a radically different way of looking at Parkinson's disease," said Lang. "We've reached a point where, in the era of novel biomarkers … our research needs to be driven by biological determinants of the disease rather than simply limited to a clinical description of the signs and symptoms." Novel Parkinson's Classification Model Offers New Criteria for Defining Disease Parkinson's is typically diagnosed by doctors identifying symptoms in a clinical setting. In recent decades, researchers have uncovered biological causes for the disease — including genetic factors and the presence of the synuclein protein in the brain — but until recently, methods to test for these biomarkers in living patients have been largely unavailable. Lang hopes this major step toward a biological model will drive research to investigate these biomarkers and give scientists a more complex understanding of the disease. This in turn may drive development of new diagnosis and treatment methods. Lang and his colleagues call this new model "SynNeurGe" (pronounced "synergy"), based on the three key biological aspects used to identify the disease and their important interactions: Syn – The presence of the alpha-synuclein protein — often referred to as the "Parkinson's protein" — which can currently be measured in bodily fluids like spinal fluid as well as in the skin and, hopefully in the near future, in the blood. Neur – The presence of neurodegeneration that occurs as Parkinson's progresses. Ge – The presence of genetic factors known to cause the disease. This new three-part classification aims to account for the many different ways Parkinson's disease presents in patients. For example, based on current, limited testing methods, some patients with genetic forms of Parkinson's disease do not show signs of the synuclein protein in the brain after death. Lang hopes future research will ultimately enable doctors to classify patients based on different categories and types of Parkinson's. "We can't limit ourselves just to saying Parkinson's is a synuclein disease," said Lang. "If we're ever going to change the research and advance our understanding of all aspects of the disease — understanding the underlying biology and the various mechanisms whereby cells die, understanding the epidemiology of the disease, developing new biomarkers and eventually moving to precision medicine and successful disease modification — we really need a different classification. Our classification is a much broader, all-encompassing way of looking at Parkinson's." New Model Drives Research in Parkinson's and Other Disease Areas Additionally, this model will drive research to better distinguish Parkinson's from other diseases that cause deterioration in the brain, enabling scientists to develop more effective ways to diagnose and treat these conditions. For example, the synuclein protein is also involved in conditions like multiple system atrophy (MSA). Lang hopes this new approach will give researchers clearer goals for understanding how synuclein is related to brain deterioration and genetic factors in Parkinson's compared to its role in other, similar diseases. In the future, this may help researchers more accurately distinguish between the early stages of each disease. Importantly, Lang emphasized that this new biological classification is for research purposes only and is not intended to be applied in clinical care. There are a number of important research questions that need to be answered before this model could be used in routine patient care. For example, researchers need to conduct large prospective studies to better understand the biological factors involved when a patient has a synuclein-positive laboratory result without any clinical symptoms of Parkinson's. "Parkinson's is the most rapidly increasing neurodegenerative disease. It causes tremendous impact on health care and quality of life. We need treatments that will slow the progression and change the natural course of these neurodegenerative diseases," said Lang. "We have to expand our considerations if we're ever going to see a change in brain health as it [is impacted by] neurodegenerative diseases, and we really believe this is the first step toward getting there." Visit wcn-neurology.com to learn more about Dr. Lang and all the featured research at this year's WCN. About the World Congress of Neurology The World Federation of Neurology's World Congress of Neurology brings together leading neuroscientists and public health experts to turn research into action and emphasize the importance of brain health across the globe. The 26th biennial conference was held in Montreal from October 15 to 19, 2023, and was co-hosted by the Canadian Neurological Society (CNS). About the World Federation of Neurology With support from its 123 national Member Societies, the World Federation of Neurology fosters quality neurology and brain health worldwide by promoting neurological education and training, emphasizing under-resourced areas of the world. As a non-state actor in official relations, WFN supports the World Health Organization (WHO) efforts to give everyone an equal chance to live a healthy life. With Member Societies around the globe, WFN unites the world's neurologists to ensure quality neurology and advocate for people to have better brain health. Learn more about the World Federation of Neurology at wfneurology.org. Media Contact Ryan Pollock, Yakkety Yak [email protected] SOURCE World Federation of Neurology

TUESDAY, Aug. 1, 2023 -- In a study of families that have multiple children with autism, researchers have unearthed new insights into genes that might drive the disorder. “Study design is critical, and not enough attention has been paid to studying families with more than one affected child,” said lead author Dr. Daniel Geschwind , a professor of human genetics, neurology and psychiatry at UCLA in Los Angeles. While past research has mostly focused on families with one child who has autism, few have examined the role of rare inherited variations or their interaction with the combined effect of multiple common genetic variations that contribute to the risk of developing autism, according to this study. At least 50% of genetic risk is predicted by common genetic variation and another 15% to 20% is due to spontaneous mutations or predictable inheritance patterns. The remaining genetic risk is yet to be determined. To study this, researchers did whole genome sequencing in more than 4,550 people from just over 1,000 families with at least two children diagnosed with autism. This group included more than 1,800 children with autism and more than 400 children without an autism diagnosis. The researchers found seven potential genes that are predicted to increase the risk of autism: PLEKHA8, PRR25, FBXL13, VPS54, SLFN5, SNCAIP and TGM1. Most of the new genes were supported by rare inherited DNA variations that were transmitted from parents to children. They also examined what is called polygenic risk, in which a combination of commonly found genetic variations can raise the likelihood of developing autism. Children who inherited rare mutations from unaffected parents in combination with polygenic risk were more likely to have autism, the study showed. The findings help explain why parents who carry a single rare mutation may not show signs of autism even if their children do, according to the study. It also supports the liability threshold model, a concept in behavioral genetics that holds there is an additive effect of genes that influences the probability that someone develops a certain trait. Children who had a language delay had a higher likelihood of inheriting a polygenic score associated with autism. There was not a similar relationship for children without language delays. This pattern was specific to autism. It was not seen in educational attainment, schizophrenia or bipolar disorder, according to the authors, who said this suggests there’s a link between the genetic risk for autism and language delay. "This association of general risk for [autism] that was strongest in those with language delay suggests that language is actually a core component of [autism]," Geschwind said. The findings were published July 28 in the Proceedings of the National Academy of Sciences. Sources University of California, Los Angeles, Health Sciences, news release, July 28, 2023 Posted August 2023