Case Closed? Study Rules Out Mystery Neurologic Syndrome
What has been described as a mysterious neurologic syndrome of unknown cause (NSUC) in the Canadian province of New Brunswick is a 'perfect storm' of 'misdiagnosis, misdocumentation, and misinformation,' according to the senior author Anthony Lang, MD, professor and past director of neurology at the University of Toronto, Toronto, of a cross-sectional study of 25 of the cases.
The study, which was published on May 7 in JAMA Neurology, found 'no support for the existence of an undiagnosed mystery disease' in a cross-section of 222 cases reported to Public Health New Brunswick (PHNB). Instead, the authors suggested that all patients had 'other diagnosable neurological conditions that could benefit from multidisciplinary treatment and other resources.'
'When you start to see the evidence, as we did, you realize that it's a house of cards,' Lang told Medscape Medical News.
'The consequences of this are immense,' he continued. 'Being told you have a mystery disease that could be fatal…a progressive, fatal disease with rapidly progressive dementia, is very harmful…and we really feel that patients who have received this diagnosis need to avail themselves of a proper second opinion by experts and then have the appropriate treatment when it's possible.'
Low Uptake
To be eligible for the study, New Brunswick patients had to have a provisional diagnosis of NSUC, atypical prion disease, neurotoxic syndrome, or rapidly progressive dementia (RPD). Eligible patients were invited to undergo additional testing and clinical evaluation by an independent expert.
But because of the controversy around the issue, which has created political heat and public mistrust since the first cases were reported in 2019, many patients either refused (n = 52) or did not respond (n = 42) to the invitation.
Among 105 patients originally assessed by Alier Marrero, MD, at the Moncton Interdisciplinary Neurodegenerative Diseases (MIND) clinic, Moncton, New Brunswick, which was set up to handle the problem, consent (or waiver of consent) was obtained for only 25 cases: 14 living and 11 deceased.
The median age at symptom onset in the cohort was 55 years, ranging from 16 to 81 years. Data from patients' initial consultations and follow-ups were analyzed along with the results of a second, independent clinical evaluation by a movement disorders specialist or a behavioral neurologist.
Additional testing included electrophysiology evaluation for movement disorders, complete neurocognitive assessment, EEG, Dopamine Transporter Scan, and [18F]fludeoxyglucose–positron emission tomography.
For the deceased patients, autopsies included pathology evaluation as part of the Canadian Creutzfeldt-Jakob Disease Surveillance System with extensive tissue sampling and immunohistochemical analysis for prion diseases and other dementias.
Other Diagnoses
All 25 patients had 'definable and diagnosable neurological disorders that really refuted the concept of a mysterious brain disease of unknown cause or an NSIC,' said Lang. Diagnoses included Alzheimer's disease, Parkinson's disease, progressive supranuclear palsy, other neurodegenerative conditions, functional neurologic disorder, traumatic brain injury, and persisting postconcussion symptoms, he said.
'Diagnostic inaccuracies stemmed from incorrect interpretation of histories (eg, overdiagnosis of RPD), inaccurate physical examination interpretation (eg, myoclonus, ataxia), and overreliance on or misinterpretation of ancillary testing such as EEG and SPECT [single-photon emission computed tomography],' wrote the study authors.
'The records were not accurate,' said Lang. 'They said the patient had hallucinations, or the patient had such and such. When we asked the patient who came back for a second opinion, they said, 'No, I never had that.' Or there was documentation of myoclonus, of ataxia, of dementia, and then we found no myoclonus, no ataxia, no dementia on clinical examination.'
The researchers also used statistical modeling to calculate the probability of NSUC in the other cases not included in the study. 'We said, well, what about the other 200-some patients that had been documented in public health? What are the chances of any of them having a mysterious, undiagnosed neurological disease? And the statistics said that it was less than a one-in-a-million chance of any of those remaining patients having a mystery disease,' he said. 'So, we feel very confident that even though we have the small numbers, they are very, very convincing.'
But Marrero disputed the JAMA findings. He first raised concerns with provincial health authorities in 2020 about a growing number of atypical RPD cases in the province, including several cases of Creutzfeldt-Jakob disease.
Marrero was initially hired as one of the clinicians who followed the patients at MIND but was fired in 2022 for performance reasons and moved to the Dr Georges-L.-Dumont University Hospital Centre in Moncton. His patients were given the option to follow him or be assigned a new MIND clinician.
An initial public health review and separate epidemiologic investigation of the first 48 cases concluded that the patients shared no common symptoms or syndrome. 'Although some of the cases have presentations with unusual symptomology, they do not appear to have a common illness with an unknown etiology, and there is no evidence of a cluster of a neurological syndrome of unknown cause,' it concluded, according to a provincial government website established to update the public.
The investigation was closed, but after a provincial election in October 2024, the newly elected government reopened the investigation. Although public health authorities have officially recorded 222 cases, Marrero, who was disciplined for improper paperwork and reporting, told Medscape Medical News that he has now evaluated more than 500 patients in this cluster.
'I am appalled that a parallel investigation with a small number of patients has apparently been conducted for a long time without our knowledge or our patients' and families' knowledge,' he said. 'I am in profound disagreement with the study conclusions and have many questions regarding the methods and the content.'
Not Convinced
New Brunswick's Chief Medical Officer of Health, Yves Leger, MD, emphasized in a statement that the JAMA findings 'do not change my office's intention to complete its own investigation into cases of undiagnosed neurological illness in New Brunswick. Work has been underway on this matter since early 2023 with support from the Public Health Agency of Canada (PHAC).'
'There are too many unanswered questions for us to stop the work that Public Health is doing to be able to provide patients — and potentially future patients — with the information they need about what's causing these illnesses,' New Brunswick Premier Susan Holt told reporters in reaction to the JAMA findings.
'On request from PHNB, PHAC has also agreed to conduct a scientific review of the investigation findings once PHNB has completed its analysis and interpretation,' said a spokesperson for PHAC.
'I trust that the current process of independent multidisciplinary scientific investigation and extensive file analysis that is underway by our public health authorities could provide appropriate answers to our communities,' said Marrero. 'We are hopeful that this process would include not only comprehensive additional patient testing but also testing for water, food, soil, and air samples in the affected areas, as well as additional patient support and effective prevention and treatment measures.'
But Connie Marras, MD, PhD, a University of Toronto neurologist and movement disorder specialist with an expertise in epidemiology, questioned the need for further investigation.
'It is premature to start looking at any environmental agents that might be responsible for this before we have evidence that there is indeed a cluster, and both the investigations that have been done so far don't support that,' Marras, who was not involved in any of the investigations, told Medscape Medical News. 'The evidence that has been pulled together to date strongly suggests that there is not a unifying, underlying diagnosis for these individuals.'
If the current evidence is insufficient to convince public health and the public, then an ideal next step, from an epidemiologic point of view, would be to test a larger, random sample of patients, she said. The limitations of the JAMA study included small numbers and the potential for selection bias.
'If the purportedly affected people are willing to submit to further evaluation, their engagement in this is critical, for the sake of everybody.'
The study 'underscores the critical importance of systematic data collection and objective evaluation (seeing) in cases of neurological syndromes with unknown causes,' wrote Michael Okun, MD, professor of neurology and director of the Norman Fixel Institute for Neurological Diseases at the University of Florida Health in Gainesville, Florida, in a post on X.
'I completely agree with the authors that these types of unknown 'neuro' cases are 'complex neurological disorders [that will] benefit from a second, independent and/or subspecialist evaluation and require multidisciplinary support throughout the diagnostic journey.' Always ask yourself, 'Do you see what you want to see? Are you being rigorous and as unbiased as possible? Are you open to revising your initial impressions? Can a second look enhance diagnostic accuracy and outcomes?'…These authors are sharing hard data to help us to understand a phenomenon. We must always seek clarity.'
No funding source for the study was reported. Lang reported receiving personal fees from AbbVie, AFFiRis, Alector, Amylyx Pharmaceuticals, APRINOIA Therapeutics, Biogen, BioAdvance, Biohaven, BioVie, BlueRock, Bristol Myers Squibb, Cavion, CoA Therapeutics, Denali, Janssen Pharmaceuticals, Jazz Pharmaceuticals, Lilly, Novartis, Paladin, Pharma Two B Ltd., PsychoGenics, Roche, Sun Pharma, and UCB outside the submitted work and litigation related to paraquat and Parkinson's disease (for the plaintiffs). Marrero and Marras reported having no relevant financial relationships.
Hashtags
Try Our AI Features
Explore what Daily8 AI can do for you:
Comments
No comments yet...
Related Articles
Yahoo
9 hours ago
- Yahoo
Quantum Super Hub: Meet the ChatGPT of quantum computing unveiled in Canada
In a bold step toward making quantum computing accessible enough to solve everyday problems, the Canadian city of Lethbridge has launched a first-of-its-kind community-based Quantum Super Hub. This new facility is being hailed as the 'ChatGPT of quantum computing'. Similar to how ChatGPT made AI easy to use, the new hub brings the power of quantum computing and other high-powered tools like AI and GPUs within reach of local businesses, students, and researchers. "By anchoring Canada's first Super Hub at Tecconnect, we're giving local innovators the tools to solve global problems—from agri-tech to logistics—with computing power once thought to be years away," said Renae Barlow, vice president of Economic Development Lethbridge (EDL), a not-for-profit organization involved in the development of Quantum Super Hub,. The main highlight of the quantum super hub is that anyone can describe a problem in plain language, and the system automatically decides whether to solve it using quantum computing, AI, or traditional supercomputers. 'The whole value proposition for the super platform is that it leverages a combination of classical and quantum hardware. It uses Nvidia GPUs, it uses quantum parts, it uses gate-based quantum machines, it uses classical CPUs, and GPUs. It figures out how to best solve the problem using a combination of these architectures," said Muhammad Khan, CEO of SuperQ Quantum Computing, the company that developed the hub. The development is being seen as a major leap as quantum computers, while powerful, have traditionally been out of reach for most people and companies. This is because they require expensive lab setups, highly trained quantum scientists, and complex programming skills. What the Super Quantum Hub does differently is simplify the user experience while intelligently picking the right computing strategy—sometimes quantum, sometimes classical, often both. It's this combination that makes it powerful and accessible. On top of the tech, a formidable support system has been put in place to help users. According to the SuperQ team, local businesses can get help at every step—from identifying key problems to testing solutions and receiving training. Moreover, workshops, pilot programs, and various other opportunities from the University of Lethbridge and Lethbridge Polytechnic are being offered to make sure people, researchers, and businesses benefit from the hub. "There are going to be students coming from the University of Lethbridge and Lethbridge Polytechnic who are going to have the opportunity to immerse a little further in these technologies, and also, there's new initiatives propping up as we move forward. Even the access for researchers is a very exciting proposition with the hub being open now," Eyren Uggenti, who leads professional services at SuperQ, added. The implications of this new hub are huge. Until now, quantum computing has been a distant dream for most industries. With this new model, companies in fields like precision agriculture, agri-tech, logistics, manufacturing, and finance can actually use quantum-level power to solve problems that are too complex or time-consuming. For instance, they can model climate risk in real time, simulate complex supply chains, or optimize energy use in manufacturing processes. Additionally, quantum hardware remains expensive and specialized. This is why the new hybrid model, where quantum is used only when needed, proves important. It allows industries to start benefiting from quantum power today without waiting for the technology to fully mature. Looking ahead, if the Lethbridge Super Quantum Hub proves successful, SuperQ plans to expand, with the next hub expected to open in the United Arab Emirates. The hope is that this model will unlock access to quantum computing worldwide.
Yahoo
19 hours ago
- Yahoo
Sword Health Now Valued At $4 Billion, Announces Expansion Into Mental Health Services
Sword Health announced Tuesday that it had raised $40 million in a recent funding round, giving it a $4 billion valuation. Founded in 2015, the healthcare startup has focused on helping people manage chronic pain at home. Using AI tools, the platform connects users with expert clinicians who then provide patients with tools for digital physical therapy, pelvic health, and overall mobility health. However, the company says this new round of funding will largely go towards developing a mental health arm of its program called Mind. Don't Miss: Maker of the $60,000 foldable home has 3 factory buildings, 600+ houses built, and big plans to solve housing — Peter Thiel turned $1,700 into $5 billion—now accredited investors are eyeing this software company with similar breakout potential. Learn how you can "Today, nearly 1 billion people worldwide live with a mental health condition. Yet care remains fragmented, reactive, and inaccessible," Sword said in the announcement. "Mind redefines mental health care delivery with a proactive, 24/7 model that integrates cutting-edge AI with licensed, Ph.D-level mental health specialists. Together, they provide seamless, contextual, and responsive support any time people need it, not just when they have an appointment." Sword CEO Virgílio Bento told CNBC, "[Mind] really a breakthrough in terms of how we address mental health, and this is only possible because we have AI." Users will be equipped with a wearable device called an M-band, which will measure their environmental and physiological signals so that experts can reach out proactively as needed. The program will also offer access to services like traditional talk therapy. Bento told CNBC that a human is "always involved" in patients care in each of its programs, and that AI is not making any clinical decisions. Trending: Maximize saving for your retirement and cut down on taxes: . For example, if a Sword patient has an anxiety attack, AI will identify it through the wearable and bring it to the attention of a clinician, who can then provide an appropriate care plan. "You have an anxiety issue today, and the way you're going to manage is to talk about it one week from now? That just doesn't work," Bento told CNBC. "Mental health should be always on, where you have a problem now, and you can have immediate help in the moment." According to Bento, Sword Mind already has a waiting list, and is being tested by some of its partners who appreciate it's "personalized approach and convenience." "We believe that it is really the future of how mental health is going to be delivered in the future, by us and by other companies," he told CNBC. "AI plays a very important role, but the use of AI — and I think this is very important — needs to be used in a very smart way." The rest of the cash raised in the funding round, which was led by General Catalyst, will go towards acquisitions, global expansion, and AI development, Sword Health says. Read Next: Here's what Americans think you need to be considered Shutterstock UNLOCKED: 5 NEW TRADES EVERY WEEK. Click now to get top trade ideas daily, plus unlimited access to cutting-edge tools and strategies to gain an edge in the markets. Get the latest stock analysis from Benzinga? APPLE (AAPL): Free Stock Analysis Report TESLA (TSLA): Free Stock Analysis Report This article Sword Health Now Valued At $4 Billion, Announces Expansion Into Mental Health Services originally appeared on © 2025 Benzinga does not provide investment advice. All rights reserved. Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Yahoo
a day ago
- Yahoo
Sword Health Now Valued At $4 Billion, Announces Expansion Into Mental Health Services
Sword Health announced Tuesday that it had raised $40 million in a recent funding round, giving it a $4 billion valuation. Founded in 2015, the healthcare startup has focused on helping people manage chronic pain at home. Using AI tools, the platform connects users with expert clinicians who then provide patients with tools for digital physical therapy, pelvic health, and overall mobility health. However, the company says this new round of funding will largely go towards developing a mental health arm of its program called Mind. Don't Miss: Maker of the $60,000 foldable home has 3 factory buildings, 600+ houses built, and big plans to solve housing — Peter Thiel turned $1,700 into $5 billion—now accredited investors are eyeing this software company with similar breakout potential. Learn how you can "Today, nearly 1 billion people worldwide live with a mental health condition. Yet care remains fragmented, reactive, and inaccessible," Sword said in the announcement. "Mind redefines mental health care delivery with a proactive, 24/7 model that integrates cutting-edge AI with licensed, Ph.D-level mental health specialists. Together, they provide seamless, contextual, and responsive support any time people need it, not just when they have an appointment." Sword CEO Virgílio Bento told CNBC, "[Mind] really a breakthrough in terms of how we address mental health, and this is only possible because we have AI." Users will be equipped with a wearable device called an M-band, which will measure their environmental and physiological signals so that experts can reach out proactively as needed. The program will also offer access to services like traditional talk therapy. Bento told CNBC that a human is "always involved" in patients care in each of its programs, and that AI is not making any clinical decisions. Trending: Maximize saving for your retirement and cut down on taxes: . For example, if a Sword patient has an anxiety attack, AI will identify it through the wearable and bring it to the attention of a clinician, who can then provide an appropriate care plan. "You have an anxiety issue today, and the way you're going to manage is to talk about it one week from now? That just doesn't work," Bento told CNBC. "Mental health should be always on, where you have a problem now, and you can have immediate help in the moment." According to Bento, Sword Mind already has a waiting list, and is being tested by some of its partners who appreciate it's "personalized approach and convenience." "We believe that it is really the future of how mental health is going to be delivered in the future, by us and by other companies," he told CNBC. "AI plays a very important role, but the use of AI — and I think this is very important — needs to be used in a very smart way." The rest of the cash raised in the funding round, which was led by General Catalyst, will go towards acquisitions, global expansion, and AI development, Sword Health says. Read Next: Here's what Americans think you need to be considered Shutterstock UNLOCKED: 5 NEW TRADES EVERY WEEK. Click now to get top trade ideas daily, plus unlimited access to cutting-edge tools and strategies to gain an edge in the markets. Get the latest stock analysis from Benzinga? APPLE (AAPL): Free Stock Analysis Report TESLA (TSLA): Free Stock Analysis Report This article Sword Health Now Valued At $4 Billion, Announces Expansion Into Mental Health Services originally appeared on © 2025 Benzinga does not provide investment advice. All rights reserved. Inicia sesión para acceder a tu portafolio
