AI in Neurology: Everything, Everywhere, All at Once Part 1: Principles and Practice

神经学中的人工智能：无处不在，一应俱全 第一部分：原理与实践

Artificial intelligence (AI) is rapidly transforming healthcare, yet it often remains opaque to clinicians, scientists, and patients alike. This review, part 1 of a 3-part series, provides neurologists and neuroscientists with a foundational understanding of AI's key concepts, terminology, and applications. We begin by tracing AI's origins in mathematics, human logic, and brain-inspired neural networks to establish a context for its development. The review highlights AI's growing role in neurological diagnostics and treatment, emphasizing machine learning applications, such as computer vision, brain-machine interfaces, and precision care. By mapping the evolution of AI tools and linking them to neuroscience and human reasoning, we illustrate how AI is reshaping neurological practice and research. We end the review with an overview of model selection in AI and a case scenario illustrating how AI may drive precision neurological care. Part 1 sets the stage for part 2, which will focus on practical applications of AI in real-world scenarios where humans and AI collaborate as joint cognitive systems. Part 3 will examine AI's integration with extensive healthcare and neurology networks, innovative clinical trials, and massive datasets, expanding our vision of AI's global impact on neurology, healthcare systems, and society.

人工智能（AI）正在迅速改变医疗保健领域，但临床医生、科学家和患者往往都不太了解它。本综述是一个系列三篇文章的第一篇，旨在为神经科医生和神经科学家提供人工智能关键概念、术语和应用的基础理解。我们首先追溯人工智能在数学、人类逻辑和受大脑启发的神经网络领域的起源，为其发展构建背景。该综述强调了人工智能在神经诊断和治疗中日益重要的作用，着重介绍了机器学习的应用，如计算机视觉、脑机接口和精准医疗。通过描绘人工智能工具的发展历程并将其与神经科学和人类推理联系起来，我们展示了人工智能如何重塑神经科实践和研究。综述最后概述了人工智能中的模型选择，并给出一个案例场景，说明人工智能如何推动精准神经科护理。第一篇为第二篇奠定了基础，第二篇将聚焦于在现实场景中人类与人工智能作为联合认知系统进行协作的实际应用。第三篇将探讨人工智能与广泛的医疗保健和神经科网络、创新临床试验以及海量数据集的整合，拓展我们对人工智能在神经科、医疗保健系统和社会方面全球影响的认知。

REF: Rizzo M, Dawson JD. AI in Neurology: Everything, Everywhere, All at Once Part 1: Principles and Practice. Ann Neurol. 2025;98(2):211-230. doi:10.1002/ana.27225 PMID: 40536356

Characterization of Neuropsychiatric Conditions in United States Resettled Refugees at a Single Academic Center

某单一学术中心对美国重新安置难民神经精神疾病状况的特征分析

Neuropsychiatric diseases are common among forcibly displaced persons, and a better understanding is needed to improve screening and treatment efforts. We performed a retrospective cross-sectional study at a single academic center looking at neuropsychiatric diagnoses of United States resettled refugees presenting for their domestic medical examination. Over one-third (33%) of our study population had at least one neuropsychiatric diagnosis. Although globally and in the United States, leading causes of neurological disease are stroke, dementia, and migraines, in our clinic the predominant etiologies were headache disorders, peripheral nerve disorders, and traumatic brain injury, highlighting a need for broadening screening at this initial visit.

神经精神疾病在被迫流离失所者中很常见，需要更好地了解相关情况以改进筛查和治疗工作。我们在一家学术中心开展了一项回顾性横断面研究，对前来进行国内体检的美国重新安置难民的神经精神疾病诊断情况进行了调查。超过三分之一（33%）的研究对象至少被诊断出一种神经精神疾病。尽管在全球和美国，神经系统疾病的主要病因是中风、痴呆和偏头痛，但在我们的诊所中，主要病因是头痛疾病、周围神经疾病和创伤性脑损伤，这凸显了在初次就诊时扩大筛查范围的必要性。

REF: Shaik NF, Gadde U, Barden-Maja AY. Characterization of Neuropsychiatric Conditions in United States Resettled Refugees at a Single Academic Center. Ann Neurol. 2025;98(2):231-235. doi:10.1002/ana.27296 PMID: 40521750 PMCID: PMC12278187

Amyloid PET in Sporadic Early- Versus Late-Onset Alzheimer's Disease: Comparison of the LEADS and ADNI Cohorts

散发性早发型与晚发型阿尔茨海默病的淀粉样蛋白正电子发射断层显像：LEADS队列与ADNI队列的比较

Early-onset Alzheimer's disease (EOAD) and late-onset Alzheimer's disease (LOAD) differ in many respects. Here, we address the issue of possible differences in fibrillar amyloid pathology as measured by positron emission tomography (PET), which remains unresolved due to the lack of large-scale comparative studies. Differences in the burden of amyloid pathology may contribute to differences in clinical and anatomic patterns in sporadic EOAD and LOAD, and have implications for optimizing therapeutic strategies in each group.

早发型阿尔茨海默病（EOAD）和晚发型阿尔茨海默病（LOAD）在许多方面存在差异。在此，我们探讨通过正电子发射断层扫描（PET）检测的纤维状淀粉样蛋白病理可能存在的差异问题，由于缺乏大规模的对比研究，该问题仍未得到解决。淀粉样蛋白病理负担的差异可能导致散发性EOAD和LOAD在临床和解剖学模式上出现差异，并且对优化每组的治疗策略具有重要意义。

REF: Lagarde J, Maiti P, Schonhaut DR, et al. Amyloid PET in Sporadic Early- Versus Late-Onset Alzheimer's Disease: Comparison of the LEADS and ADNI Cohorts. Ann Neurol. 2025;98(2):236-248. doi:10.1002/ana.27233 PMID: 40091774 PMCID: PMC12406739

Cerebral Edema Progression and Outcomes in Large Infarct Patients Undergoing Endovascular Thrombectomy

接受血管内血栓切除术的大面积梗死患者的脑水肿进展及预后情况

The goal was to analyze the progression of cerebral edema post-endovascular thrombectomy (EVT) in large infarcts and its association with functional outcomes. In patients with large infarct cores, EVT was associated with an early increased mass effect compared with MM, potentially mediating poorer functional outcomes. Despite the evident overall benefits from thrombectomy, accurate prediction and effective anti-edema interventions for the early mass effect post-EVT may further improve outcomes. The complex relationship between NWU and cerebral edema progression warrants further investigation.

研究目的是分析大面积梗死患者血管内取栓术（EVT）后脑水肿的进展情况及其与功能预后的关系。在大面积梗死核心的患者中，与药物治疗（MM）相比，EVT与早期占位效应增加相关，这可能导致功能预后较差。尽管取栓术总体上有明显益处，但对EVT后早期占位效应进行准确预测并采取有效的抗水肿干预措施可能会进一步改善预后。神经功能恶化（NWU）与脑水肿进展之间的复杂关系值得进一步研究。

REF: Nie X, Liu J, Yan B, et al. Cerebral Edema Progression and Outcomes in Large Infarct Patients Undergoing Endovascular Thrombectomy. Ann Neurol. 2025;98(2):258-269. doi:10.1002/ana.27235 PMID: 40065687

Prevalence of Cerebral Amyloid Angiopathy and Associated Risk of Subsequent Ischemic and Hemorrhagic Stroke and Mortality in a Nationwide Cohort

全国性队列中脑淀粉样血管病的患病率及后续缺血性和出血性中风风险和死亡率情况

There are limited population-based data regarding the prevalence of cerebral amyloid angiopathy (CAA) and associated risks of mortality and incident cerebrovascular events. In a large, nationwide cohort of Medicare beneficiaries, the prevalence of clinically diagnosed CAA was approximately 11 per 10,000. CAA was associated with an increased risk of mortality and incident stroke, both hemorrhagic and ischemic.

关于脑淀粉样血管病（CAA）的患病率以及相关的死亡风险和新发脑血管事件风险，基于人群的研究数据有限。在一个大型的全国性医疗保险受益人群队列中，临床诊断为CAA的患病率约为每10000人中有11例。CAA与死亡风险增加以及出血性和缺血性新发中风风险增加相关。

REF: Bruce SS, Zhang C, Liberman AL, et al. Prevalence of Cerebral Amyloid Angiopathy and Associated Risk of Subsequent Ischemic and Hemorrhagic Stroke and Mortality in a Nationwide Cohort. Ann Neurol. 2025;98(2):249-257. doi:10.1002/ana.27253 PMID: 40309957

Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort – Implications for NOTCH3 Variant-Specific Disease Prediction

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）队列中血管NOTCH3聚集与疾病严重程度的关联——对NOTCH3变异特异性疾病预测的意义

Vascular NOTCH3 protein ectodomain aggregation is a pathological hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a monogenic small vessel disease typically caused by cysteine-altering variants in NOTCH3. Given their high population frequency, these NOTCH3 variants are an important genetic contributor to stroke and vascular dementia worldwide. Disease severity in CADASIL is highly variable and is mainly determined by the position of the pathogenic NOTCH3 variant in the NOTCH3 ectodomain. Here, we aimed to investigate the association between NOTCH3 aggregation load in skin vessels, cysteine-altering NOTCH3 variants, and disease severity in a prospective cohort study of 212 patients with CADASIL with 39 distinct cysteine-altering NOTCH3 variants. These findings suggest that differences in NOTCH3 aggregation propensity underlie the differences in disease severity associated with NOTCH3 cysteine-altering variants, and show that NOTCH3-variant specific NOTCH3 scores can contribute to improved individualized disease prediction in CADASIL.

血管NOTCH3蛋白胞外结构域聚集是伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的病理标志，CADASIL是一种单基因小血管病，通常由NOTCH3基因中导致半胱氨酸改变的变异引起。鉴于这些NOTCH3变异在人群中的高频率，它们是全球范围内中风和血管性痴呆的重要遗传因素。CADASIL的疾病严重程度差异很大，主要由致病的NOTCH3变异在NOTCH3胞外结构域中的位置决定。在此，我们在一项针对212例携带39种不同的导致半胱氨酸改变的NOTCH3变异的CADASIL患者的前瞻性队列研究中，旨在探究皮肤血管中NOTCH3聚集负荷、导致半胱氨酸改变的NOTCH3变异与疾病严重程度之间的关联。这些发现表明，NOTCH3聚集倾向的差异是与NOTCH3导致半胱氨酸改变的变异相关的疾病严重程度差异的基础，并显示针对NOTCH3变异的NOTCH3评分有助于改善CADASIL的个体化疾病预测。

REF: Cerfontaine MN, Gravesteijn G, Hack RJ, et al. Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction. Ann Neurol. 2025;98(2):273-285. doi:10.1002/ana.27240 PMID: 40265482 PMCID: PMC12278194

Phosphatemia is an Independent Prognostic Factor in Amyotrophic Lateral Sclerosis

血磷水平是肌萎缩侧索硬化症的独立预后因素

The objective of this study was to evaluate the prognostic value of several muscle damage biomarkers. Creatininemia was confirmed as a prognostic marker in amyotrophic lateral sclerosis (ALS). Additionally, both phosphatemia levels at diagnosis and its rate of change over time were identified as a potential prognostic marker for ALS. As with other blood biomarkers, phosphate levels are cost-effective and minimally invasive to measure, supporting their potential use in clinical trials.

本研究的目的是评估几种肌肉损伤生物标志物的预后价值。血肌酐已被证实是肌萎缩侧索硬化症（ALS）的一种预后标志物。此外，诊断时的血磷水平及其随时间的变化率均被确定为 ALS 的潜在预后标志物。与其他血液生物标志物一样，血磷水平检测成本效益高且微创，这支持了其在临床试验中的潜在应用。

REF: Vasta R, Koumantakis E, Canosa A, et al. Phosphatemia is an Independent Prognostic Factor in Amyotrophic Lateral Sclerosis. Ann Neurol. 2025;98(2):286-293. doi:10.1002/ana.27252 PMID: 40285624 PMCID: PMC12278033

Effectiveness of Autologous Hematopoietic Stem Cell Transplantation versus Alemtuzumab and Ocrelizumab in Relapsing Multiple Sclerosis: A Single Center Cohort Study

自体造血干细胞移植与阿仑单抗和奥瑞珠单抗治疗复发型多发性硬化症的有效性：一项单中心队列研究

To compare clinical and radiological outcomes among relapsing multiple sclerosis patients treated with autologous hematopoietic stem cell transplantation (AHSCT), alemtuzumab (ATZ), and ocrelizumab (OCR). AHSCT was followed by greater prevention of relapses compared with ATZ and OCR, and suppressed more profoundly MRI activity than ATZ, but similarly to OCR, albeit with shorter follow up. The risk of accumulating disability was similar among the treated groups. Studies with larger sample sizes and longer follow up may enable confirmation of these findings or detection of any additional differential effects.

比较接受自体造血干细胞移植（AHSCT）、阿仑单抗（ATZ）和奥瑞珠单抗（OCR）治疗的复发型多发性硬化症患者的临床和影像学结局。与ATZ和OCR相比，AHSCT能更好地预防复发，且在较短的随访期内，其对磁共振成像（MRI）活动的抑制作用比ATZ更显著，但与OCR相似。各治疗组累积残疾的风险相似。样本量更大、随访时间更长的研究可能有助于证实这些发现或发现任何其他差异效应。

REF: Muraro PA, Zito A, Signori A, et al. Effectiveness of Autologous Hematopoietic Stem Cell Transplantation versus Alemtuzumab and Ocrelizumab in Relapsing Multiple Sclerosis: A Single Center Cohort Study. Ann Neurol. 2025;98(2):294-307. doi:10.1002/ana.27247 PMID: 40251896 PMCID: PMC12278282

Detecting New Lesions Using a Large Language Model: Applications in Real-World Multiple Sclerosis Datasets

使用大语言模型检测新病灶：在真实世界多发性硬化症数据集里的应用

Neuroimaging is routinely utilized to identify new inflammatory activity in multiple sclerosis (MS). A large language model to classify narrative magnetic resonance imaging reports in the electronic health record (EHR) as discrete data could provide significant benefits for MS research. The objectives of the current study were to develop such a prompt and to illustrate its research applications through a common clinical scenario: monitoring response to B-cell depleting therapy (BCDT). Extracting discrete information from narrative imaging reports using an large language model is feasible and efficient. This approach could augment many real-world analyses of MS disease evolution and treatment response.

神经影像学通常用于识别多发性硬化症（MS）的新炎症活动。一个能够将电子健康记录（EHR）中的磁共振成像叙述性报告分类为离散数据的大语言模型，可为MS研究带来显著益处。本研究的目标是开发这样一个提示，并通过一个常见的临床场景——监测B细胞耗竭疗法（BCDT）的反应——来说明其研究应用。利用大语言模型从叙述性影像报告中提取离散信息是可行且高效的。这种方法可以增强对MS疾病进展和治疗反应的许多真实世界分析。

REF: Poole S, Sisodia N, Koshal K, et al. Detecting New Lesions Using a Large Language Model: Applications in Real-World Multiple Sclerosis Datasets. Ann Neurol. 2025;98(2):308-316. doi:10.1002/ana.27251 PMID: 40277428 PMCID: PMC12278027