UHN study finds patients diagnosed with New Brunswick "mystery brain disease" have diagnosable neurological conditions
TORONTO, May 7, 2025 /CNW/ - A study published today in JAMA Neurology has found patients previously diagnosed with a "mystery brain disease" that emerged in New Brunswick, Canada, had known neurological conditions—some involving brain cell damage, such as dementia, and others not involving degeneration, like head injuries.
'Involving input from various health care professionals such as neurologists, psychologists, and rehabilitation specialists can play a vital role in guiding patients through complex and uncertain diagnostic journeys,' says Dr. Anthony Lang, neurologist, Senior Scientist at UHN's Krembil Brain Institute and senior author of the study. (Credit: University Health Network) (CNW Group/University Health Network)
Led by Dr. Anthony Lang, a neurologist and Senior Scientist at University Health Network's (UHN) Krembil Brain Institute, the study was a collaboration between Horizon Health Network in New Brunswick and UHN in Toronto. It involved a detailed clinical and pathological (post-mortem tissue) analysis of 25 individuals previously labeled as having New Brunswick Neurological Syndrome of Unknown Cause (NSUC).
Researchers conducted independent clinical evaluations of 14 patients and autopsy evaluations of 11 deceased individuals. Most of the 105 patients originally identified either did not respond or declined the offer for further investigation.
"We found that what had been termed a 'mystery brain disease' was, in fact, a collection of identifiable medical conditions," said Dr. Lang. "These included well-characterized neurological disorders, such as Parkinson's disease, dementia, traumatic brain injury, and functional neurological disorder, a condition where physical symptoms like tremors or memory issues occur without clear structural brain damage."
The research team reviewed clinical records and diagnostic tests—including MRI scans, brain blood flow studies, and electroencephalograms (EEGs), which measure electrical activity in the brain—spanning from 2019 to 2025. They found no evidence of a novel or previously unidentified disease in any of the 25 cases.
The study also revealed significant discrepancies in many cases between the original clinical documentation and the findings from the second, independent assessments. Some diagnoses leaned too heavily on specific tests without enough clinical context on certain diagnostic tests. In all 25 cases, researchers found no evidence of a new disease.
"By analyzing the data, we were able to clarify the specific conditions contributing to the patients' symptoms," said Dr. Nathaniel Bendahan, a UHN Clinical Research Fellow at the time and first author of this study. "Rather than a single new disease, we found a range of distinct neurological diseases."
The findings underscore the importance of expert second opinions in complex or uncertain neurological cases—especially when initial diagnoses are unclear.
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