"Case Report: Klinefelter Syndrome Presenting With Dystonic Tremor: Expanding the Phenotypic Spectrum and Therapeutic Option" [0.03%]
病例报告：以 dystonic 震颤为表现的克氏综合征——扩展临床谱系和治疗选择
Debayan Dutta,Jacky Ganguly,Purba Basu et al.
Debayan Dutta et al.
Background: Klinefelter syndrome (KS) is associated with tremor and dystonia, but the exact phenomenology and neurophysiology are not well described. Case...
Sara J Hooshmand,Tina Liu,Rushna Ali et al.
Sara J Hooshmand et al.
Background: Magnetic resonance-guided focused ultrasound thalamotomy (MR-FUS) is a promising, noninvasive treatment for medically refractory essential tremor (ET). It is well tolerated, with the most common side effects b...
Patient Perception of Vocal Tremor Severity and its Relationship to Acoustic Voice Outcomes: An Exploratory Study [0.03%]
发声颤动的患者感知及其与声学嗓音结果关系的探索性研究
James C Borders,Gary Gartling,Elizabeth Hary et al.
James C Borders et al.
Background: Vocal tremor profoundly impacts communication, social participation, and quality of life. Although expert auditory-perceptual ratings of vocal tremor severity align with acoustic voice outcomes (e.g., extent o...
Thalamic Structural Connectivity Alterations in Essential Tremor Associated with REM Sleep Behaviour Disorder [0.03%]
与快速动眼睡眠行为障碍相关的特发性震颤的丘脑结构连接改变
Elisa Bortolin,Camilla Calomino,Rita Nisticò et al.
Elisa Bortolin et al.
Background: REM sleep behavior disorder (RBD) is a rare REM-parasomnia, now considered a non-motor symptom of Essential Tremor (ET). Distinct structural alterations in the thalamus, as a key region modulating REM sleep, h...
A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives [0.03%]
POLG相关性小脑共济失调的综述：见解与临床视角
Stefania Kalampokini,Iraklis Keramidiotis,Stylianos Ravanidis et al.
Stefania Kalampokini et al.
Background: Cerebellar ataxia is one of the most common movement disorders in mitochondrial disease, with POLG mutations being a frequent cause. This scoping review aimed to summarize current knowledge regarding cerebella...
Adult-Onset Myoclonus: Comparisons and Contrasts in the Inpatient and Outpatient Settings [0.03%]
成人期肌阵挛：住院和门诊的比较与对照
Moath Hamed,Karin Oh,Donna Zarandi et al.
Moath Hamed et al.
Background: Myoclonus is a hyperkinetic movement disorder presenting as rapid jerky involuntary movements. The etiology of myoclonus differs between in-hospital and outpatient clinic settings. Historically, those in the h...
Movement Disorders and Oculomotor Abnormalities in Whipple's Disease: An Updated Systematic Review [0.03%]
whipple病的运动障碍和眼肌异常的系统性回顾更新
Errikos Maslias,Ruben Anker,Philip Euskirchen et al.
Errikos Maslias et al.
Introduction: Whipple's disease (WhD) is a rare multisystemic infection caused by Tropheryma whipplei, with central nervous system (CNS) involvement seen in up to 50% of cases. Neurological symptoms may precede systemic f...
Uncovering Cognitive Subtypes in Essential Tremor: A Data-Driven Clustering Approach in Cognitively Normal Individuals [0.03%]
数据驱动的方法在认知正常esserntial tremor患者中发现认知亚型
Alessia Sarica,Camilla Calomino,Rita Nisticò et al.
Alessia Sarica et al.
Background: Different profiles of cognitive functioning have been demonstrated in ET subjects, also in patients with normal cognition. However, the prognostic significance of these profiles remains still debated. In this ...
Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia [0.03%]
与关节挛缩和舌肌张力障碍有关的MYH3有害纯合变异体
Charlotte Mouraux,Claire Fouquet,Keith Durkin et al.
Charlotte Mouraux et al.
Introduction: Heterozygous pathogenic variants in MYH3 are known to be responsible for distal arthrogryposis. Case report: We report a ...
Corpus Callosum Structural Alterations in Essential Tremor with and Without Resting Tremor: A Multimodal MRI Study [0.03%]
伴有和不伴静息震颤的额叶震颤患者胼胝体结构改变：一种多模式MRI研究
Valerio Riccardo Aquila,Maria Celeste Bonacci,Maria Eugenia Caligiuri et al.
Valerio Riccardo Aquila et al.
Background: Essential tremor (ET) is a common movement disorder characterized by postural and kinetic tremor. Some patients also show resting tremor, being classified as the ET-plus distinct subtype. The corpus callosum (...