Bruce Abrahamse

Bruce Abrahamse

April 4, 2025

Researchers Identify New Subtypes of Common Brain Disorder

Despite decades of study, this disorder has proven difficult for researchers to understand fully. In fact, its exact causes are still largely unknown, and treatment options are often limited to surgical intervention. Yet, it has been estimated to affect up to 4% of the population! Known as Chiari type-1 malformation, this brain disorder is characterized by the lower part of the brain protruding more than 5 millimeters through the gap where the spinal cord connects to the skull. 

The Cause and Symptoms of Chiari Type-1 Malformation 

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There is still much that we don’t understand about this condition. For example, we don’t know what causes it, and the symptoms are rather unpredictable, making the condition hard to treat. The most common issues associated with the condition include difficulty swallowing, headaches, and a decrease in muscle strength. It’s also common for people to develop syringomyelia, a condition characterized by the formation of cysts in the spinal cord. These symptoms can either appear on their own or in various combinations. Many people with this condition continue to live their whole lives with none of these symptoms at all. Since the condition varies in degree so much, creating a consistently effective treatment for patients is quite a challenge. 

The Study on the Chiari Type-1 Malformation Brain Disorder

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However, this huge chasm in our understanding has recently grown a little narrower thanks to a study. Conducted by researchers at Washington University in St. Louis, the study defined three different sub-types of the brain disorder. They discovered that each sub-type could be recognized by distinct characteristics. This will allow physicians to create treatment options that are customized to their patients’ specific needs. For example, in certain patients, the opening of the base can be widened surgically to help reduce pressure. If there is less pressure on the brain, then it could relieve the patient of several symptoms. 

A Common Sight For Neurosurgeons

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While you may never have heard of this condition before, most neurosurgeons are all too aware of it. In fact, it’s estimated to be among the top causes of that type of surgery, according to the author’s study. However, he added that not every individual responds to the procedure or even requires it.  It is mostly valuable for individuals who experience symptoms such as headaches and syringomyelia. However, some people carry on experiencing these symptoms even after surgery. Most cases are undetected and can often be managed with pain medications when diagnosed. 

Read More: Expert Questions Whether Alzheimer’s Is Truly a Brain Disease

Incomplete Information

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According to the study’s author, Dr. Sean Gupta, MD, “In some population studies, looking at a random selection of people who had MRIs but no diagnosis, when we specifically look for Chiari malformations you find something like up to 4% of the population has it, but it doesn’t necessarily cause them any problems”. Yet, for those who do experience a degradation of health, much remains uncertain about how treatment should be administered. The study was so complex because there were so many variables to consider. There were, in fact, hundreds of variables for every patient that needed to be factored. Thankfully, there are new AI tools that are capable of sifting through massive data sets to identify potential correlations within these variables. 

Patterns Emerge

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One of the study’s co-lead authors, Ziqi Xu, created an AI algorithm that was capable of sifting through the more than 500 variables, figuring out which of them were clustered together in the dataset. Out of this complex web of data points, three distinct subsets of this brain disorder began to emerge. Patients in the first cluster subset were far more likely to be female, were diagnosed later in childhood, and had severe headaches and several other health problems. Patients in the 2nd subset were typically younger and had fewer headaches. However,  they also had more motor control problems and difficulty swallowing. The third subset was typically characterized by spinal abnormalities that necessitated the regular decompression surgery as well as further spinal surgeries.

Developing Effective Guidelines

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According to Dr. Gupta, “This should help in the effort to develop guidelines that will decide which patients need to get surgery, and what type of surgery, or what other therapy may need to happen. We need to have some sort of evidence-based consensus opinion on how a clinician treats or manages these patients”. Up until this point, they have only been working with incomplete data. Yet, these new advances in AI, coupled with access to vast datasets, have opened up the possibilities for generating deeper insights that will allow clinicians to develop better treatments. 

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