Frequency and characteristics of functional neurological disorder in the emergency department [0.03%]
急诊科功能性神经症状障碍的患病率和特点
Kay Hellwig,Benedikt Frank,Rosa Michaelis et al.
Kay Hellwig et al.
Background: Functional neurological disorders (FND) are common yet frequently under-recognized in emergency settings. Reliance on diagnostic coding alone (e.g. ICD-10 diagnoses F44 and F45) likely underestimates their tru...
Andrew J Larner,Rónán O&#x;Caoimh
Andrew J Larner
Nonmotor fluctuations in Parkinson's disease: impact on caregiving and quality of life [0.03%]
帕金森病的非运动波动对照料者及生活质量的影响
Claudia Ledda,Gabriele Imbalzano,Elena Scaglia et al.
Claudia Ledda et al.
Background: Parkinson's disease (PD) is characterized by a combination of motor and non-motor symptoms, which can fluctuate over time. Recognition of nonmotor fluctuations (NMF) as a distinct and relevant feature of PD is...
Observational Study
Journal of neurology. 2025 Sep 22;272(9):639. DOI:10.1007/s00415-025-13390-9 2025
Camptocormia in Parkinson's disease: state of the art and future directions [0.03%]
帕金森病中的前弯征：现状与未来方向
Valeria Sajin,Mark Goodall,Antonella Macerollo
Valeria Sajin
Camptocormia is a frequent axial postural deformity in Parkinson's disease (PD) that is prevalent in up to 18% in the PD population. Camptocormic PD patients have a lower quality of life and higher risks of falls, back pain and spondylarthr...
Diagnostic performance of the 2010, 2017, and 2024 McDonald criteria: clinical implications in multiple sclerosis [0.03%]
2010、2017及2024年McDonald多发性硬化诊断标准的诊断效能：临床意义
Mario Habek,Ivan Adamec,Tereza Gabelić et al.
Mario Habek et al.
Objective: To compare the sensitivity, specificity, predictive value, and accuracy of the 2010, 2017, and 2024 revisions of the McDonald criteria in a cohort of patients who have experienced their first demyelinating even...
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort [0.03%]
来自一个大型法裔加拿大队列的SCA27B致病阈值和表型谱的研究发现
Pablo Iruzubieta,David Pellerin,Catherine Ashton et al.
Pablo Iruzubieta et al.
Background: Autosomal dominant spinocerebellar ataxia 27B (SCA27B), caused by an intronic (GAA•TTC) repeat expansion in FGF14, is a common cause of late-onset cerebellar ataxia, but its genotypic and phenotypic spectrum ...
Thomas Giannelli,Anna Ladogana,Dorina Tiple et al.
Thomas Giannelli et al.
Background: Creutzfeldt-Jakob disease (CJD) is the most common human prion disease, with genetic forms linked to PRNP gene mutations accounting for 10-15% of cases. We present a case of probable genetic prion disease asso...
Mariam M Yousuf,Hidenori Endo,Jonathan D Santoro
Mariam M Yousuf
Hyo-Jung Kim,Seoyeon Kim,So-Yeon Yun et al.
Hyo-Jung Kim et al.
Genetic background of neurological disorders with basal ganglia calcification [0.03%]
基底神经节钙化性神经系统疾病的遗传背景研究进展
Maha Yektay Farahmand,Joel Wallenius,Johan Wasselius et al.
Maha Yektay Farahmand et al.
Background: Bilateral basal ganglia calcifications (BGCs), if severe, are known hallmarks for idiopathic BGC disease (IBGC), but if milder, are often considered radiological findings of unknown significance. In previous s...