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http://dx.doi.org/10.1093/jnen/nlad021 | DOI Listing |
Signal Transduct Target Ther
September 2025
Institute of Neuroscience, Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.
Essential tremor (ET) is a common neurological disease that is characterized by 4-12 Hz kinetic tremors of the upper limbs and high genetic heterogeneity. Although numerous candidate genes and loci have been reported, the etiology of ET remains unclear. A novel ET-related gene was initially identified in a five-generation family via whole-exome sequencing, and other variants were identified in 772 familial ET probands and 640 sporadic individuals via whole-genome sequencing.
View Article and Find Full Text PDFSeizure
August 2025
Serviço de Neurologia, Departamento de Neurociências e Saúde Mental, Hospital Santa Maria, Unidade Local de Saúde Santa Maria, Lisboa, Portugal; Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal; Laboratório de EEG/Sono, Serviço de Neurologi
Introduction: Subtle involuntary movements in patients with impaired awareness may suggest non-convulsive status epilepticus (NCSE), but their diagnostic accuracy is unclear. Since electroencephalography (EEG) is not always available, clinicians often rely on motor signs for early diagnosis. We aimed to characterize these movements and evaluate interrater agreement and diagnostic accuracy among specialists.
View Article and Find Full Text PDFMov Disord
September 2025
Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
Background: The hallmark feature of tremor is rhythmicity, which can be quantified using power spectral density (PSD) analysis. However, tremor exhibits considerable variability, ranging from highly regular to more irregular patterns. Similarly, rhythmicity in myoclonus varies, but it typically manifests as arrhythmic jerks.
View Article and Find Full Text PDFBrain
September 2025
IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, 40139, Italy.
An early diagnosis of Parkinson's disease (PD) represents a challenge and novel accurate biomarkers are therefore urgently needed. Detection of phosphorylated α-synuclein (p-α-syn) in skin nerve fibers has shown promise as such a marker. However, its accuracy for the identification of PD among patients with early signs of parkinsonism has not been thoroughly explored.
View Article and Find Full Text PDFCureus
August 2025
Neurology, Emory University, Atlanta, USA.
Deep brain stimulation (DBS) and the use of directional subsegmental stimulation have significantly advanced symptom management in patients with Parkinson's disease (PD) and essential tremor (ET). This study examines the use of directional programming in a tertiary care center. We retrospectively reviewed medical records of 12 PD patients (all with bilateral subthalamic nucleus (STN) implants) and 13 ET patients (12 with bilateral and 1 with unilateral ventral intermediate nucleus (VIM) implants) who received directional leads.
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