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When perinatal injury is not the answer: A case report of late diagnosis of A TUBB3-related tubulinopathy. 当围产期损伤不是答案:一例晚期诊断的tubb3相关的小管病报告。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-09 DOI: 10.1007/s10072-025-08764-w
Gabriele Imbalzano, Claudia Ledda, Giovanni Morana, Leonardo Lopiano, Marco Bozzali
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引用次数: 0
Letter to the editor concerning "Wilson disease: time frame for improvement of neurological symptomology may exceed a decade". 致编辑关于“威尔逊病:改善神经症状的时间框架可能超过十年”的信。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-09 DOI: 10.1007/s10072-025-08783-7
Agnieszka Antos, Tomasz Litwin, Jan Paweł Bembenek
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引用次数: 0
Seizure characteristics and neurological outcomes in pediatric anti-NMDAR encephalitis: a cohort study from Southern China. 小儿抗nmdar脑炎的发作特征和神经预后:来自中国南方的一项队列研究。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-09 DOI: 10.1007/s10072-025-08660-3
Haixia Zhu, Wenlin Wu, Chi Hou, Wenxiao Wu, Yanping Ran, Lianfeng Chen, Kelu Zheng, Yani Zhang, Yiru Zeng, Yang Tian, Yuanyuan Gao, Bingwei Peng, Xiuying Wang, Yinting Liao, Xiaojing Li, Wen-Xiong Chen
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引用次数: 0
A familiar case with an unfamiliar turn. 一个熟悉的案子有了不熟悉的转折。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1007/s10072-025-08684-9
Isabel Ros-González, Carmen Lage, Carmen Montes-Gaisan, José María Gómez-Ortega, Sara López-García, Francisco Martínez-Dubarbie, Ana Pozueta-Cantudo, María García-Martínez, Andrea Corrales-Pardo, Eva Ruiz-Pérez, Esther Onecha, María Bravo, Eloy Rodríguez-Rodríguez, Marta Fernández-Matarrubia
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引用次数: 0
Palmitoylethanolamide (PEA) in the treatment of restless legs syndrome: Rationale and case report. 棕榈酰乙醇酰胺(PEA)治疗不宁腿综合征:原理和病例报告。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1007/s10072-025-08677-8
Jean-Marc Bugnicourt

Restless legs syndrome (RLS) is a common, sleep-related, neurological disorder. Various treatments are available but some have side effects. Therefore, alternative treatment options with minimal side effects are being actively sought. Palmitoylethanolamide (PEA) is an endogenous lipid signalling molecule known to have anti-inflammatory and analgesic properties. According to the literature, oral PEA supplementation can decrease the levels of pain associated with central and peripheral neurological conditions, such as migraine and peripheral neuropathy. For the first time, we report of a gabapentin-treated patient whose painful symptoms of RLS decreased in intensity following the initiation of supplementation with PEA. No adverse events were reported.

不宁腿综合征(RLS)是一种常见的与睡眠有关的神经系统疾病。有多种治疗方法,但有些有副作用。因此,正在积极寻求副作用最小的替代治疗方案。棕榈酰乙醇酰胺(PEA)是一种内源性脂质信号分子,已知具有抗炎和镇痛特性。根据文献,口服PEA补充剂可以降低与中枢和周围神经疾病(如偏头痛和周围神经病变)相关的疼痛水平。我们首次报道了一位加巴喷丁治疗的患者,在开始补充PEA后,RLS疼痛症状的强度有所下降。无不良事件报告。
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引用次数: 0
Digital twin frameworks for polio and post-polio neurodegeneration: Toward predictive, personalised lifelong neuro-rehabilitation. 脊髓灰质炎和脊髓灰质炎后神经退行性变的数字孪生框架:走向可预测的、个性化的终身神经康复。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1007/s10072-025-08777-5
Ruqaiyyah Siddiqui, Naveed Ahmed Khan

Poliomyelitis is a neuroinvasive viral disease that, despite near-global eradication, has left millions of survivors worldwide with lifelong motor-system injury. Many develop delayed neurological decline decades later in the form of Post-polio syndrome, characterised by progressive weakness, fatigue, pain, and respiratory compromise. Disease trajectories are highly heterogeneous, unpredictable, and shaped by complex interactions between residual motor-neuron pools, muscle adaptation, ageing, metabolism, and immune tone. Conventional care relies on episodic clinical review and reactive rehabilitation, with limited capacity for long-term personalised forecasting. Digital-twin technology, defined as an adaptive computational model that continuously mirrors an individual's biological and functional state, offers a transformative framework for predictive and precision-guided lifelong polio care. By integrating neuromuscular physiology, biomechanics, metabolic status, wearable sensor data, and rehabilitation responses, digital twins could enable real-time modelling of motor-unit decline, functional reserve, respiratory vulnerability, and fatigue dynamics. This article outlines a focused conceptual framework for polio digital twins, emphasising model architecture, feedback loops, and translational applications, rather than virological biology. The proposed framework positions digital twins as a missing precision-medicine layer for a neglected global survivor population.

脊髓灰质炎是一种神经侵入性病毒性疾病,尽管几乎在全球范围内被根除,但仍使全世界数百万幸存者终身运动系统损伤。许多人在几十年后以脊髓灰质炎后综合征的形式出现迟发性神经功能衰退,其特征是进行性虚弱、疲劳、疼痛和呼吸衰竭。疾病轨迹是高度异质性的,不可预测的,并由残余运动神经元池、肌肉适应、衰老、代谢和免疫张力之间复杂的相互作用形成。传统护理依赖于偶发性临床回顾和反应性康复,长期个性化预测能力有限。数字孪生技术被定义为一种持续反映个人生物和功能状态的自适应计算模型,它为预测和精确指导的脊髓灰质炎终身护理提供了一个变革性框架。通过整合神经肌肉生理学、生物力学、代谢状态、可穿戴传感器数据和康复反应,数字双胞胎可以实现运动单元衰退、功能储备、呼吸易感性和疲劳动力学的实时建模。本文概述了脊髓灰质炎数字双胞胎的重点概念框架,强调模型架构、反馈回路和转化应用,而不是病毒学生物学。提出的框架将数字孪生定位为被忽视的全球幸存者群体缺失的精准医学层。
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引用次数: 0
Adult-onset and late-onset multiple sclerosis in older adults in a Finnish university hospital. 芬兰一所大学医院老年人成年性和迟发性多发性硬化症。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1007/s10072-025-08756-w
Kimi Ahtinen, Iiro Korhonen, Hanna Kuusisto, Ilkka Rauma

Background: The clinical characteristics of multiple sclerosis (MS) in individuals aged 65 years and older remain scarcely studied. This retrospective study compared late-onset MS (LOMS, onset ≥ 50 years) and adult-onset MS (AOMS, onset 18-49 years) in older adults with MS (OAwMS) aged ≥ 65 years.

Methods: Data of subjects aged ≥ 65 years with a confirmed MS diagnosis and a recorded age at onset were collected from the Finnish MS registry at Tampere University Hospital, excluding individuals with paediatric-onset MS. Demographics, disease-modifying therapy (DMT) use, relapse history and Expanded Disability Status Scale (EDSS) scores were compared between LOMS and AOMS groups.

Results: The cohort included 248 subjects (41 LOMS, 207 AOMS). Primary progressive MS (PPMS) was more common in LOMS when compared to AOMS (41.5% vs. 12.6% at data acquisition, p < 0.001). Among subjects with a history of relapsing-remitting MS (RRMS) (32 LOMS, 178 AOMS), DMT had been used by 25.0% and 27.5% of subjects with LOMS and AOMS, and relapses after age 65 occurred in 18.8% and 7.3% of subjects with LOMS and AOMS, respectively. Subjects with LOMS discontinued DMT at an older age when compared to those with AOMS (mean 64.0 vs. 58.8 years, p = 0.04). No age-related differences in EDSS were observed after age 65.

Conclusions: PPMS was more common among subjects with LOMS. Among subjects with a current or previous diagnosis of RRMS, occasional relapses were observed after age 65 in both groups, though multiple relapses were rare. These findings support the need for individualised care of OAwMS.

背景:65岁及以上人群多发性硬化症(MS)的临床特征研究甚少。本回顾性研究比较了年龄≥65岁的老年MS (OAwMS)的迟发性MS (LOMS,起病≥50年)和成发性MS (AOMS,起病18-49年)。方法:从坦佩雷大学医院芬兰多发性硬化症登记中心收集年龄≥65岁、确诊多发性硬化症和有发病年龄记录的受试者数据,排除儿科发病多发性硬化症患者,比较LOMS组和AOMS组的人口统计学、疾病改善治疗(DMT)使用、复发史和扩展残疾状态量表(EDSS)评分。结果:共纳入248例受试者(LOMS 41例,AOMS 207例)。原发性进展性MS (PPMS)在LOMS患者中比在AOMS患者中更常见(数据采集时为41.5%比12.6%)。结论:PPMS在LOMS患者中更常见。在当前或既往诊断为RRMS的受试者中,两组在65岁后都观察到偶尔复发,尽管多次复发很少见。这些发现支持了对OAwMS进行个性化护理的必要性。
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引用次数: 0
Coexisting cerebellar ataxia and Lambert-Eaton myasthenic syndrome without malignancy: insights from a case and systematic literature review. 无恶性的小脑共济失调和兰伯特-伊顿肌无力综合征共存:从一个病例和系统文献回顾的见解。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1007/s10072-025-08589-7
Prachi Mohapatra, Shikha Priya, Anil Dash, Rajesh Kumar Singh, Arunmozhimaran Elavarasi, Jasmine Parihar, Animesh Das, Deepti Vibha, Manjari Tripathi
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引用次数: 0
Spinocerebellar ataxia type 40 presenting with isolated cervical dystonia: expanding the phenotypic spectrum. 脊髓小脑性共济失调40型表现为孤立的颈椎肌张力障碍:扩大表型谱。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1007/s10072-025-08755-x
Halil Onder, Haktan Bagis Erdem, Serdar Ceylaner, Selcuk Comoglu
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引用次数: 0
A case of seropositive autoimmune autonomic ganglionopathy treated with rituximab: Case report and review of the literature. 利妥昔单抗治疗血清阳性自身免疫自主神经节病1例:病例报告及文献复习。
IF 2.4 4区 医学 Q2 CLINICAL NEUROLOGY Pub Date : 2026-01-08 DOI: 10.1007/s10072-025-08626-5
Rita Tucci, M Morra, S Maule, A Chio, A Calvo, M C Vigliani

Autoimmune autonomic ganglionopathy (AAG) is an acquired disease characterized by the dysfunction of the autonomic system, involving the sympathetic, parasympathetic and enteric divisions. We describe the case of a 49-years-old woman who presented with an acute abdomen due to diverticulitis and a severe orthostatic hypotension. During hospitalization she developed fixed mydriasis, xerophthalmia, xerostomia, anhidrosis, and urinary retention. The patient was diagnosed as seropositive AAG. She was treated with intravenous immunoglobulin (IVIg) plus high-dose oral prednisone (OP), followed by plasma exchange (PLEX). The patient showed a good response to the combined therapy and was discharged after nearly one month of hospitalization. Ten days later she experienced a symptomatic relapse, for which a treatment with rituximab (RTX) 1 g once a week was initiated and maintained for 4 weeks. During the second week of infusion, she was readmitted to the hospital due to intestinal perforation. After recovery, RTX was resumed with clinical benefit. In addition to the case report, we present a review of AAG case reports available in the literature.

自身免疫性自主神经节病(AAG)是一种以自主神经系统功能障碍为特征的获得性疾病,涉及交感神经、副交感神经和肠部。我们描述的情况下,49岁的妇女谁提出了急性腹部由于憩室炎和严重的直立性低血压。住院期间出现固定流泪、干眼、口干、无汗及尿潴留。诊断为血清AAG阳性。静脉注射免疫球蛋白(IVIg)加大剂量口服强的松(OP),血浆置换(PLEX)。患者对综合治疗效果良好,住院近1个月后出院。10天后,患者出现症状性复发,开始使用利妥昔单抗(RTX) 1 g,每周1次,持续4周。在输液的第二周,她因肠穿孔再次入院。康复后恢复RTX,临床获益。除了病例报告外,我们还回顾了文献中可用的AAG病例报告。
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Neurological Sciences
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