Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1792995 | PMC |
| http://dx.doi.org/10.1136/adc.66.4.460 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An Adult Case of Genetically Confirmed Hyperekplexia Presenting with Head Trauma.
NMC Case Rep J
August 2024
Department of Neurosurgery, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Chuo, Yamanashi, Japan.
Hyperekplexia is a rare neurological disorder that is characterized by an excessive startle response to unexpected stimuli. Recently, heterogeneous causative genes have been identified. Most cases are diagnosed during the neonatal period from hypertonia or stiffness.
View Article and Find Full Text PDFNeonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.
J Child Neurol
October 2024
Department of Educational Science, University of Catania, Catania, Italy.
Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.
View Article and Find Full Text PDFProgressive Encephalomyelitis With Rigidity and Myoclonus With Glycine Receptor and GAD65 Antibodies: Case Report and Potential Mechanisms.
Neurol Neuroimmunol Neuroinflamm
November 2024
From the Division of Neuropathology and Neurochemistry (M.W., E.G., R.H.), Department of Neurology, Medical University of Vienna; Department of Neurology (M.W.), Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria; Section of Translational Neuroimmunology (J.W., D.B., A.G., C.G.), Department of Neurology, Jena University Hospital, Germany; Comprehensive Center for Clinical Neurosciences and Mental Health (E.G., R.H.), Medical University of Vienna, Austria; Institute of Clinical Neurobiology (V.R., C.V.), University Hospital, Julius-Maximilians-University of Würzburg, Germany; Department of Neuroimmunology (J.B.), Center for Brain Research; and Center for Medical Physics and Biomedical Engineering (A.S.S., P.J.), Medical University of Vienna, Austria.
Objectives: Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a severe form of stiff-person spectrum disorder that can be associated with antibodies against surface antigens (glycine receptor (GlyR), dipeptidyl-peptidase-like-protein-6) and intracellular antigens (glutamate decarboxylase (GAD65), amphiphysin).
Methods: We report clinico-pathologic findings of a PERM patient with coexisting GlyR and GAD65 antibodies.
Results: A 75-year-old man presented with myoclonus and pain of the legs, subsequently developed severe motor symptoms, hyperekplexia, a pronounced startle reflex, hallucinations, dysautonomia, and died 10 months after onset despite extensive immunotherapy, symptomatic treatment, and continuous intensive care support.
Hyperekplexia: A Single-Center Experience.
J Child Neurol
June 2024
Department of Pediatric Neurology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Background: Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia.
Methods: The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance imaging (MRI), medications, neuropsychometric evaluations, and gene mutations of patients diagnosed with hyperekplexia were reviewed retrospectively.
Hyperekplexia: Unveiling a Rare Neurological Condition With a Treatable Solution.
Cureus
June 2024
Pediatrics, Datta Meghe Medical College, Datta Meghe Institute of Higher Education and Research (DU), Nagpur, IND.
Hyperekplexia (HPX) is a rare hereditary disorder characterized by an exaggerated startle reflex and neonatal hypertonia. It exhibits both autosomal dominant and autosomal recessive inheritance patterns, depending on the gene involved. It could be a fatal neurogenetic disorder, but it is treatable.
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!