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Genomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding and noncoding variants. One gene with an excess of protein-coding variants is that also is the gene underlying the Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). In previous work, we have identified noncoding variants in an enhancer of called hs737 and further showed that there was an enrichment of deletions of this enhancer in individuals with neurodevelopmental disorders.
View Article and Find Full Text PDFSubstantia nigra degeneration in spinocerebellar ataxia 2 and 7 using neuromelanin-sensitive imaging.
Eur J Neurol
January 2025
Institut du Cerveau-Paris Brain Institute ICM, Sorbonne Université, Inserm 1127, CNRS 7225, Hôpital de la Pitié Salpêtrière Paris, Paris, France.
Objective: Spinocerebellar ataxias (SCA) are neurodegenerative diseases with widespread lesions across the central nervous system. Ataxia and spasticity are usually predominant, but patients may also present with parkinsonism. We aimed to characterize substantia nigra pars compacta (SNc) degeneration in SCA2 and 7 using neuromelanin-sensitive imaging.
View Article and Find Full Text PDF[A case of paroxysmal dysarthria and ataxia appeared late after treatment of myelin oligodendrocyte glycoprotein (MOG) antibody-related isolated rhombencephalitis].
Rinsho Shinkeigaku
December 2024
Department of Neurology and Stroke Treatment, Kyoto First Red Cross Hospital.
A 49-year-old female was admitted to our hospital due to acute-onset dysarthria and unstable gait. Brain MR diffusion weighted imaging revealed high signal intensities in the midbrain. Brain tumors, abscess and demyelinating lesions was suspected firstly as etiology of the lesion and antibiotics and antiviral drug were started under consulting with the neurosurgeon about brain biopsy.
View Article and Find Full Text PDFInfarctive encephalopathy in zoo-housed gibbons in North America.
Vet Pathol
December 2024
Cornell University, Ithaca, NY.
Progressive neurologic signs without a known underlying etiology have been observed in managed gibbon populations housed at institutions in North America. In 2018, the Gibbon Species Survival Plan initiated a veterinary survey to evaluate clinical histories among gibbons displaying neurologic signs. The clinical results of this survey as well as the results of a centralized histologic review of brain samples from 5 species of managed gibbons displaying neurologic signs are outlined here.
View Article and Find Full Text PDFBrain-Region-Specific Differences in Protein Citrullination/Deimination in a Pre-Motor Parkinson's Disease Rat Model.
Int J Mol Sci
October 2024
Pathobiology and Extracellular Vesicles Research Group, School of Life Sciences, University of Westminster, London W1W 6XH, UK.
Article Synopsis
- - Recent research highlights the significance of citrullination/deimination by peptidylarginine deiminases (PADs) in the early stages of Parkinson's disease (PD), focusing on their potential as biomarkers.
- - A study using a rat model of pre-motor PD identified significant differences in citrullinated proteins across six brain regions (cortex, hippocampus, striatum, midbrain, cerebellum, and olfactory bulb) compared to controls, with the most alterations found in the cortex and hippocampus.
- - Pathway analysis revealed unique KEGG pathways related to neurological, metabolic, immune, and hormonal functions in PD brains, some of which were specific to the disease state while others
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