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Imbalance in redox homeostasis is associated with neurodegeneration in the murine model of Tay-Sachs disease.
Mol Biol Rep
March 2025
Department of Molecular Biology and Genetics, Izmir Institute of Technology, Gulbahce Mah, Urla, 35430, Izmir, Turkey.
Background: Tay-Sachs disease is a neurodegenerative disorder characterized by a build-up of GM2 ganglioside in the brain, which results in progressive central nervous system dysfunction. Our group recently generated Hexa-/-Neu3-/- mice, a murine model with neuropathological abnormalities similar to the infantile form of Tay-Sachs disease. Previously, we reported progressive neurodegeneration with neuronal loss in the brain sections of Hexa-/-Neu3-/- mice.
View Article and Find Full Text PDFCombined treatment of Ketogenic diet and propagermanium reduces neuroinflammation in Tay-Sachs disease mouse model.
Metab Brain Dis
February 2025
Izmir Institute of Technology, Department of Molecular Biology and Genetics, Gulbahce Mah, Izmir, 35430, Urla, Turkey.
Tay-Sachs disease is a rare lysosomal storage disorder caused by β-Hexosaminidase A enzyme deficiency causing abnormal GM2 ganglioside accumulation in the central nervous system. GM2 accumulation triggers chronic neuroinflammation due to neurodegeneration-based astrogliosis and macrophage activity with the increased expression level of Ccl2 in the cortex of a recently generated Tay-Sachs disease mouse model Hexa-/-Neu3-/-. Propagermanium blocks the neuroinflammatory response induced by Ccl2, which is highly expressed in astrocytes and microglia.
View Article and Find Full Text PDFEvaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.
Clin Transl Sci
March 2025
Center for Drug Evaluation and Research, Office of Translational Science, Office of Clinical Pharmacology, US Food and Drug Administration, Silver Spring, Maryland, USA.
GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β-galactosidase enzyme activity and lead to the accumulation of glycoconjugates such as glycosphingolipid GM1-gangliosides. GM2 is caused by biallelic pathogenic variants in one of the three genes (HEXA, HEXB, and GM2A) which confer deficiency of β-hexosaminidase or the GM2 ganglioside activator protein, responsible for the catabolism of GM2 gangliosides.
View Article and Find Full Text PDFComparison of Inpatient and Emergency Department Costs to Research Funding for Functional Neurologic Disorder: An Economic Analysis.
Neurology
March 2025
James J. and Joan A. Gardner Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, OH.
Objectives: The aim of the study was to assess US inpatient and emergency department (ED) charges for functional neurologic disorder (FND), investigate subtype variations, and compare costs with research funding.
Methods: We used 2009-2019 Healthcare Cost and Utilization Project data to assess adult and pediatric inpatient/ED stays and associated charges in 2019 inflation-adjusted dollars, for ICD-10-defined FND (F.44.
Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.
Cerebellum
February 2025
Center for Rare Neurological Diseases, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Late-Onset GM2-Gangliosidoses (LOGG) are rare, neurodegenerative lysosomal disorders that include late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) subtypes. Cerebellar atrophy is common, even in the absence of clinical ataxia, particularly in LOTS. Recent reports have also described brainstem atrophy in LOTS.
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