Bendahan Nathaniel, Gautreau Sylvia, Medina Escobar Alex, Jansen Gerard H, Abdellah Eslam, Al-Shamaa Sarmad, Gilmour Gabriela S, Kalia Lorraine V, Lidstone Sarah C, MacDonald M Jason, Tartaglia Maria Carmela, Thebeau Annette, Lang Anthony E
Division of Neurology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
Edmond J. Safra and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.
JAMA Neurol. 2025 May 7. doi: 10.1001/jamaneurol.2025.1718.
In 2019, an alleged "mystery" neurological illness emerged in New Brunswick, Canada. Despite extensive media attention, no case description has been published to date.
To report on 25 patients with a diagnosis of New Brunswick neurological syndrome of unknown cause (NSUC) who subsequently received a second, independent clinical reassessment or neuropathological examination between 2020 and 2025.
DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study of cases derived from a cohort of patients (n = 222) who had received an NSUC diagnosis. Four movement disorder neurologists and 2 behavioral neurologists carried out clinical evaluations at 2 hospitals in New Brunswick and Ontario, Canada. Neuropathological diagnoses were obtained in Ontario by a neuropathologist and a second reviewer, both blinded to the case histories. Eligible patients were offered a second opinion; 4 families of deceased patients provided consent for reporting autopsies and waivers of consent were obtained for 7.
NSUC as described in the case definition circulated by Public Health New Brunswick in 2021.
Findings from the independent clinical evaluations and diagnoses obtained through neuropathological examination.
Among 105 eligible patients, 14 patients (aged 20-55 years; 8 female, 6 male) received clinical evaluations, and 11 patients (aged 56-82 years; 5 female, 6 male) had neuropathological diagnoses. Well-known conditions were identified in all 25 cases, including common neurodegenerative diseases, functional neurological disorder, traumatic brain injury, and metastatic cancer. Based on the 11 autopsy cases, a new disease was extremely unlikely, with a probability less than .001. When applying the 95% confidence interval for the true probability of no new disease, the data revealed a high probability between 87% and 100%.
There was no evidence supporting a diagnosis of NSUC in this cohort. The data inclusive of independent examinations and neuropathology strongly supported the presence of several neurodegenerative and non-neurodegenerative conditions. Unfounded concerns that a potentially fatal mystery disease, possibly induced by an environmental toxin, is causing the patients' neurological symptoms has been amplified in traditional and social media. Second, independent clinical evaluations are needed for any patient given a diagnosis of NSUC.
2019年,加拿大新不伦瑞克省出现了一种所谓的“神秘”神经系统疾病。尽管受到了媒体的广泛关注,但迄今为止尚未发表病例描述。
报告25例被诊断为新不伦瑞克省病因不明的神经综合征(NSUC)的患者,这些患者在2020年至2025年间接受了第二次独立的临床重新评估或神经病理学检查。
设计、地点和参与者:这项横断面研究的病例来自一组被诊断为NSUC的患者(n = 222)。4名运动障碍神经科医生和2名行为神经科医生在加拿大新不伦瑞克省和安大略省的2家医院进行了临床评估。安大略省的一名神经病理学家和另一名审阅者在对病史不知情的情况下进行了神经病理学诊断。符合条件的患者可获得第二种意见;4名已故患者的家属同意报告尸检情况,7名患者获得了同意豁免。
2021年新不伦瑞克省公共卫生部门发布的病例定义中所描述的NSUC。
独立临床评估的结果以及通过神经病理学检查获得的诊断。
在105名符合条件的患者中,14名患者(年龄20 - 55岁;8名女性,6名男性)接受了临床评估,11名患者(年龄56 - 82岁;5名女性,6名男性)进行了神经病理学诊断。在所有25个病例中均发现了已知疾病,包括常见的神经退行性疾病、功能性神经障碍、创伤性脑损伤和转移性癌症。基于11例尸检病例,极不可能存在一种新疾病,概率小于0.001。当应用无新疾病真实概率的95%置信区间时,数据显示概率在87%至100%之间的可能性很高。
该队列中没有证据支持NSUC的诊断。包括独立检查和神经病理学在内的数据有力地支持了几种神经退行性和非神经退行性疾病的存在。一种潜在致命的神秘疾病(可能由环境毒素引起)导致患者神经症状的无端担忧在传统媒体和社交媒体中被放大。其次,对于任何被诊断为NSUC的患者都需要进行第二次独立临床评估。