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Tremor as an intrinsic feature of juvenile myoclonic epilepsy.
Epilepsia
January 2025
Department of Medical Sciences, Institute of Neurology, Magna Græcia University, Catanzaro, Italy.
We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty-one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.
View Article and Find Full Text PDFDiagnosis of hereditary ataxias: a real-world single center experience.
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Viscous damping of tremor using a wearable robot with an optimized mechanical metamaterial.
Wearable Technol
December 2024
Robotics Research Centre, School of Mechanical and Aerospace Engineering, NTU, Singapore.
Pathological tremors can often be debilitating to activities of daily living and significantly affect the quality of life. Such tremulous movements are commonly observed in wrist flexion-extension (FE). To suppress this tremor we present a wearable robot (WR) with a customized mechanical metamaterial (MM) as the physical human-robot interface (pHRI).
View Article and Find Full Text PDFDeterioration of preexisting myoclonus following nifedipine use in parkinsonian syndrome: A case report.
eNeurologicalSci
March 2025
Department of Neurology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan.
L-type calcium channel antagonists are uncommon causes of myoclonus, and the underlying mechanism remains unclear. Here, we report a case of parkinsonian syndrome with deterioration of preexisting myoclonus after nifedipine use. A 96-year-old woman was administered a single dose of sustained-release nifedipine for chest pain.
View Article and Find Full Text PDFDifferential tractography identifies a distinct pattern of white matter alterations in essential tremor with or without resting tremor.
Neuroimage Clin
January 2025
Neuroscience Research Center, Department of Medical and Surgical Sciences, Magna Graecia University, 88100, Catanzaro, Italy.
Essential Tremor (ET) is characterized by action tremor often associated with resting tremor (rET). Although previous studies have identified widespread brain white matter (WM) alterations in ET patients, differences between ET and rET have been less explored. In this study we employed differential tractography to investigate WM microstructural alterations in these tremor disorders.
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