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Impaired Presynaptic Function Contributes Significantly to the Pathology of Glycine Receptor Autoantibodies.
Neurol Neuroimmunol Neuroinflamm
March 2025
Institute for Clinical Neurobiology, University Hospital, Julius-Maximilians-University of Würzburg, Germany.
Background And Objectives: Autoantibodies (aAbs) against glycine receptors (GlyRs) are mainly associated with the rare neurologic diseases stiff person syndrome (SPS) and progressive encephalomyelitis with rigidity and myoclonus (PERM). GlyR aAbs are also found in other neurologic diseases such as epilepsy. The aAbs bind to different GlyR α-subunits and, more rarely, also to the GlyR β-subunit.
View Article and Find Full Text PDFAdult-Onset Myoclonus in a Large Urban Inpatient Setting: A Retrospective Cohort Study.
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, New York Presbyterian Brooklyn Methodist Hospital, Brooklyn, NY, US.
Background: Myoclonus is a hyperkinetic movement with various attributable etiologies, semiologies, and treatment outcomes. To our knowledge, few studies investigated adult-onset myoclonus in an inpatient setting.
Methods: We retrospectively reviewed charts of adult inpatients with myoclonus at New York Presbyterian Brooklyn Methodist Hospital between 2011 and 2021.
[How to use clinical neurophysiology in functional neurological disorders (FND)?].
Rinsho Shinkeigaku
January 2025
Section of Human Neurophysiology, Institute of Biomedical Sciences, Fukushima Medical University.
I have reviewed the utility of clinical neurophysiological examinations in recently highlighted functional neurological disorders (FND) focusing mainly on functional movement disorders (FMD). There are many neurophysiological methods useful for diagnosis of FMD. I will hereafter summarize a few of them in the following part.
View Article and Find Full Text PDFDrug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family.
Seizure
January 2025
Department of Neurology, AIIMS, New Delhi.
Article Synopsis
- Neuronal Ceroid Lipofuscinosis (NCL) are lysosomal storage disorders leading to neurodegeneration, with adult-onset Kufs disease having distinct characteristics like later onset and preserved vision.
- The authors describe three siblings diagnosed with a novel pathogenic CLN5 subtype, showing symptoms like developmental regression and drug-resistant myoclonic epilepsy, typical of Kufs A.
- This case highlights the increasing recognition of genotypic-phenotypic variations in NCL, as these siblings had an unusual presentation of Kufs A with severe epilepsy.
Unraveling the neural signatures: Distinct pallidal patterns in dystonia subtypes.
Parkinsonism Relat Disord
January 2025
Department of Biomedical Engineering, Case Western Reserve University, Cleveland, OH, USA; Department of Neurology, Case Western Reserve University, Cleveland, OH, USA; Neurological Institute, University Hospitals, Cleveland, OH, USA; Neurology Service, Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA. Electronic address:
Introduction: Dystonia manifests as slow twisting movements (pure dystonia) or repetitive, jerky motions (jerky dystonia). Dystonia can coexist with myoclonus (myoclonus dystonia) or tremor (tremor dystonia). Each of these presentations can have distinct etiology, can involve discrete sensorimotor networks, and may have characteristic neurophysiological signature.
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