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Creutzfeldt-Jakob disease mimicking limbic encephalitis as a cause of rapid neurological deterioration.
BMJ Neurol Open
February 2025
Mater Misericordiae Health Services Brisbane Ltd, South Brisbane, Queensland, Australia.
Background: A broad range of inflammatory and neurodegenerative conditions manifest with progressive cognitive and behavioural changes. A diagnostic challenge is the differentiation of limbic encephalitis (LE) from Creutzfeldt-Jakob disease (CJD). LE and CJD are distinct neurological conditions with distinct variations in their clinical course, with overlapping clinical presentations.
View Article and Find Full Text PDFAcid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and Enzyme Activity Assay.
Neurol Genet
April 2025
AP-HP, Service de Neuropédiatrie, CRMR LEUKOFRANCE, Hôpital Robert Debré, Paris, France; and.
Background And Objectives: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive variants. Patients present in early childhood with muscle weakness due to anterior horn degeneration and/or progressive drug-resistant myoclonic epilepsy. Death usually results from respiratory complications or status epilepticus during adolescence.
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J Med Genet
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Aix Marseille Univ, INSERM, C2VN, Marseille, France
Lamins play a major role in the mechanical stability of cell nuclei, the organisation of chromatin and the DNA replication, transcription and repair. The expression profiles of A-type and B-type lamins vary depending on developmental stages, cell types and tissues. Lamin B2 is expressed very early in embryogenesis, especially in the central nervous system, where it is essential for neuronal migration and brain development.
View Article and Find Full Text PDFDelineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB-Related Neurodevelopmental Disorders.
Clin Genet
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Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Cystatin B gene (CSTB) is responsible for the most common childhood onset type of progressive myoclonic epilepsy (EPM1A). More recently, biallelic CSTB variants were described in four patients with a neonatal onset phenotype of microcephaly, diffuse hypomyelination, brain atrophic changes, and dyskinesia. Herein, we describe the clinical and molecular characterization of five additional patients in whom exome sequencing detected a splice variant (c.
View Article and Find Full Text PDFA Teen With Trisomy 18: Challenges and Triumphs of a Long Life With Edwards Syndrome.
Cureus
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Pediatrics, Carilion Clinic, Radford , USA.
Trisomy 18, also known as Edwards syndrome, is a rare genetic disorder resulting from an extra copy of chromosome 18. It is associated with severe congenital malformations, distinct clinical features, and high morbidity and mortality. Despite the odds, we describe the case of a 16-year-old female patient with trisomy 18.
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