Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Tremor Other Hyperkinet Mov (N Y)
December 2023
Department of Pediatric Neurology, Gui de Chauliac University Hospital, Montpellier, France.
Background: Essential tremor (ET) is considered the most frequent abnormal movement in the general population, with childhood onset in 5 to 30% of the patients.
Methods: A multicenter, descriptive cross-sectional study enrolled patients ⩽18 years with a definite diagnosis of ET according to the International Parkinson and Movement Disorders Society criteria. Demographic data, clinical and electrophysiological characteristics of the tremor, neurological examination and impact on quality of life were collected.
Tremor-like subcortical myoclonus in STXBP1 encephalopathy.
Eur J Paediatr Neurol
September 2021
APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière and Hôpital Armand Trousseau, Paris, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.
The phenotypic spectrum of STXBP1-related encephalopathy ranges from infantile epileptic encephalopathy to intellectual disability with nonsyndromic or absent epilepsy. Although being frequently reported, the tremor associated with STXBP1 has not been fully characterized to date. The aim of our study was to describe it.
View Article and Find Full Text PDFLong-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.
Epileptic Disord
June 2017
Istanbul University, Cerrahpasa School of Medicine, Department of Neurology, Istanbul.
Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile- and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene. We retrospectively analysed medical records and electrophysiological data in order to delineate evolution of clinical and electrophysiological findings.
View Article and Find Full Text PDFMotor cortex and hippocampus are the two main cortical targets in LGI1-antibody encephalitis.
Brain
April 2016
French Reference Centre on Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, Bron, F-69677, France Lyon Neuroscience Research Centre INSERM U1028/CNRS UMR 5292, Lyon, F-69372, France Université De Lyon - Université Claude Bernard Lyon 1, Lyon, F-69372, France.
Encephalitis associated with antibodies against leucine-rich glioma-inactivated 1 (LGI1) protein is increasingly recognized as an auto-immune disorder associated with characteristic tonic-dystonic seizures. The cortical or subcortical origin of these motor events is not clear. Some patients also present with different epileptic seizures and with cognitive impairment.
View Article and Find Full Text PDFClinical diagnosis of propriospinal myoclonus is unreliable: an electrophysiologic study.
Mov Disord
November 2013
Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.
Propriospinal myoclonus is a rare movement disorder that is hypothesized to arise from a spinal generator that transmits activity up and down the spinal cord via long propriospinal pathways. Polymyography is mandatory for the diagnosis, but the typical electrophysiological pattern described for propriospinal myoclonus has been also found in patients with psychogenic axial jerks, supported by the presence of a Bereitschaftspotential (BP; from German, "readiness potential," also called the premotor potential). We evaluated polymyographic findings in 65 patients referred to us with a clinical diagnosis of propriospinal myoclonus and also looked for the presence of the BP, as detected by jerk-locked back-averaging.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!