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A missense mutation in the gene in a patient with autism spectrum disorder and epilepsy.
J Med Life
November 2024
Department of Radiology and Imagistic Medicine 1, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
The gene (OMIM: 608271) encodes the Microtubule-Actin Cross-Linking Factor 1 protein. Existing medical research shows that genetic mutations in the gene have been associated with neurodevelopmental and neurodegenerative disorders, with variants of unknown significance also linked to autism spectrum disorder (ASD). However, the number of reported autism disorder or epilepsy cases associated with mutations remains limited.
View Article and Find Full Text PDFSegmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?
Parkinsonism Relat Disord
January 2025
Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, 00165, Italy.
Segmental Brainstem Myoclonus (SBM) is a rare movement disorder characterized by rhythmic contractions of muscles innervated by brainstem segments. We report a 20-year-old patient with ADCK3-related spinocerebellar ataxia type 9 (SCAR9) presenting with sudden-onset myoclonic movements of the throat, tongue, and soft palate. Brain MRI showed stable findings, including dentate nucleus hyperintensities.
View Article and Find Full Text PDFIntravitreal enzyme replacement therapy slows retinopathy in late infantile ceroid lipofuscinosis type 2.
Neuropediatrics
January 2025
Department of Inborn Errors of Metabolism, Ludwig-Maximilians-University Munich, University Hospital, Munich, Germany.
Ceroid lipofuscinosis type 2 (CLN2) is caused by biallelic pathogenic variants in the TPP1 gene, encoding lysosomal tripeptidyl peptidase 1 (TPP1). The classical late-infantile phenotype has an age of onset between 2 and 4 years and is characterized by psychomotor regression, myoclonus, ataxia, blindness, and shortened life expectancy. Vision loss occurs due to retinal degeneration, usually when severe neurological symptoms are already evident.
View Article and Find Full Text PDFMyoclonus After Cardiac Arrest: Need for Standardization-A Systematic Review and Research Proposal on Terminology.
Crit Care Med
November 2024
Department of Neurology, Neurocritical Care and Neurorehabilitation, Christian Doppler University Hospital, Paracelsus Medical University, Member of the European Reference Network EpiCARE, Salzburg, Austria.
Objectives: Although myoclonus less than or equal to 72 hours after cardiac arrest (CA) is often viewed as a single entity, there is considerable heterogeneity in its clinical and electrophysiology characteristics, and its strength of association with outcome. We reviewed definitions, electroencephalogram, and outcome of myoclonus post-CA to assess the need for consensus and the potential role of electroencephalogram for further research.
Data Sources: PubMed, Embase, and Cochrane databases.
Opsoclonus Myoclonus Ataxia Syndrome: An Atypical Presentation of Tuberculous Meningitis.
Am J Trop Med Hyg
January 2025
Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, India.
Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare neuroinflammatory disorder that is typically associated with paraneoplastic and postinfectious processes. Opsoclonus myoclonus ataxia syndrome has not been previously reported in association with tuberculous meningitis (TBM). This report presents a unique case in which TBM manifested as OMAS, highlighting the complex interplay between tuberculosis and autoimmune neurological conditions.
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