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Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.
Mol Genet Metab
January 2025
Image Processing & Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA. Electronic address:
Objective: GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain volumetric changes associated with this disease. This study focuses on the late-infantile and juvenile subtypes of type II GM1 gangliosidosis, aiming to quantify brain volumetric characteristics to track disease progression.
View Article and Find Full Text PDFA natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).
Orphanet J Rare Dis
December 2024
Division of Metabolism and Children's Research Center, Reference Center for Inborn Errors of Metabolism, University Children's Hospital of Zurich, University of Zurich, Zurich, Switzerland.
Article Synopsis
- RETRIEVE is a natural history study focused on the survival and disease progression of early-onset GM1, GM2, and type 2 Gaucher disease (GD2).
- The study gathered data from 185 patients retrospectively and 40 patients prospectively, revealing varying median survival rates: GM1 (19 months), GM2 (44 months), and GD2 (14 months).
- The findings noted that hypotonia was widespread among GM1 patients (94.4%), with additional symptoms like strabismus and splenomegaly specifically observed in GD2 patients, confirming known patterns of these rare lysosomal storage disorders.
Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients.
Front Neuroimaging
September 2024
Image Processing and Analysis Core (iPAC), Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, United States.
Article Synopsis
- GM1-gangliosidosis (GM1) causes significant brain degeneration, making it difficult to use automated MRI techniques for brain volume analysis. An effective standardized segmentation protocol was created to analyze MRIs from patients with type II GM1.
- A study involving 25 MRIs from 22 patients assessed the reliability of this segmentation method, focusing on various brain structures and evaluating the consistency between different raters.
- Results showed that the technique had good inter- and intra-rater reliability, especially for juvenile patients, which can enhance future research and understanding of the disease's progression over time.
Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing.
Stem Cell Res
December 2024
Division of Metabolic Disorders, Children's Hospital of Orange County Specialists, Orange, CA 92868, United States; Department of Pediatrics, University of California-Irvine School of Medicine, Irvine, CA 92697, United States. Electronic address:
Article Synopsis
- - GM1 gangliosidosis is a rare genetic disorder caused by a deficiency of the enzyme beta-galactosidase, leading to harmful buildup of GM1 ganglioside in the body.
- - There are limited resources for studying GM1, and obtaining human cell lines for research is challenging, but generating induced pluripotent stem cells (iPSCs) from skin cells of GM1 patients can help with modeling the disease.
- - The newly developed iPSC lines will be important for testing potential therapies and advancing research in gene therapy for GM1 gangliosidosis.
Establishment of iPS cell line (SDQLCHi080-A) from a patient with GM1 gangliosidosis due to GLB1 mutation.
Stem Cell Res
December 2024
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan 250022, China. Electronic address:
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder caused by defects in the beta-galactosidase (GLB1) gene, which results in accumulation of GM1 gangliosides and related glycoconjugates in the lysosomes leading to lysosomal swelling, cellular damage, and organ dysfunction. We generated SDQLCHi080-A cell line from a patient with GM1 gangliosidosis carrying mutations of c.523C > T and c.
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