Profiling circulating Tau and phospho-Tau isoforms in pediatric and adult spinal muscular atrophy identifies selective elevation of pTau-262 in adults [0.03%]
对脊髓性肌萎缩症成人及儿童患者血浆tau蛋白和磷酸化tau蛋白亚型的分析发现，成年人血浆pTau-262水平升高
Leillani L Ha,Sunayana Mitra,Doreen T Ho et al.
Leillani L Ha et al.
External validation of KFLC index threshold for multiple sclerosis diagnosis in a French cohort [0.03%]
KFLC指数阈值在法国多发性硬化症队列诊断中的外部验证
C Aguesse,E Micoud,S Vukusic et al.
C Aguesse et al.
Background: The kappa free light chains (KFLC) index was recently incorporated into the 2024 McDonald criteria as a practical alternative to oligoclonal bands (OCB) in multiple sclerosis (MS) diagnosis. Our objectives wer...
Autoantibodies in small fiber neuropathy: frequency and clinical features associated with antibodies to the novel targets MX1 and DBNL [0.03%]
小纤维神经病自身抗体的频率和与新型靶点MX1和DBNL自身抗体相关的临床特征
Luana Morelli,Fortuna Ricciardiello,Alessandro Furia et al.
Luana Morelli et al.
Small fiber neuropathy (SFN) is characterized by neuropathic pain and autonomic dysfunction. Emerging evidence suggests a potential autoimmune component, although a limited number of autoantibody targets have been implicated so far. This st...
Observational Study
Journal of neurology. 2026 Jul 17;273(8):468. DOI:10.1007/s00415-026-13995-8 2026
Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses [0.03%]
神经丝轻链(NfL)作为GM2神经节苷脂贮积病的替代结局测量指标
Kyriakos Martakis,Nicolas J Abreu,Joshua J Baker et al.
Kyriakos Martakis et al.
Background: The GM2 gangliosidoses (GM2) are ultra-rare neurodegenerative disorders caused by deficient hexosaminidase A and/or B activity, leading to lysosomal GM2 ganglioside accumulation. Disease onset ranges from infa...
Multicenter Study
Journal of neurology. 2026 Jul 17;273(8):467. DOI:10.1007/s00415-026-13984-x 2026
Very late-onset myasthenia gravis: a systematic review and meta-analysis of sex distribution, thymic pathology and autoantibodies [0.03%]
非常晚发重症肌无力的系统评价和meta分析（性别分布、胸腺病理及自身抗体）
Ioannis Liampas,Silvia Demiri,Gerasimos Malataras et al.
Ioannis Liampas et al.
Objectives: We compared very late-onset myasthenia gravis (vloMG; onset ≥ 65 years) with MG beginning before age 65 years (non-vloMG) and contextualized these findings using the conventional early-onset (< 50 years, EOMG...
Anti-NMDA receptor encephalitis outcomes in a population-based cohort [0.03%]
一项基于人群队列的抗N-甲基-D天冬氨酸（NMDA）受体脑炎的转归研究
Viridiana Hernandez-Lopez,Jessica B Smith,Samir Alsalek et al.
Viridiana Hernandez-Lopez et al.
Background and objective: Prior studies of anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARE) may have overestimated poor long-term outcomes and relapse rates and underestimated mortality because they were cond...
Ultrasonography demonstrates vagus nerve atrophy in Parkinson's disease: a meta-analysis [0.03%]
帕金森病的迷走神经萎缩超声影像学meta分析
Laura C J Sijben,Sander M J van Kuijk,Ali Jahanshahi et al.
Laura C J Sijben et al.
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and non-motor symptoms, including autonomic dysfunction. Increasing evidence suggests that PD pathology may originate...
Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis [0.03%]
结节性硬化症复合体成人患者的癫痫与残疾状况：一项为期16年的回顾性分析
Quentin Calonge,Aurélie Hanin,Maëlle Dade et al.
Quentin Calonge et al.
Background: To identify factors associated with persistent seizures and disability in adults with tuberous sclerosis complex (TSC)-related epilepsy. Metho...
João Pedro do Couto Caetano,Isadora Wiegand Mascarenhas,Alice Alves Petry
João Pedro do Couto Caetano
Andrew J Larner
Andrew J Larner