{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["D'Souza P"],"funding":["National Institute of Neurological Disorders and Stroke","Intramural NIH HHS","National Institute on Deafness and Other Communication Disorders","Australian Government","National Institute of Mental Health","National Institutes of Health","National Human Genome Research Institute"],"pagination":["101144"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11348282"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(7)"],"pubmed_abstract":["<h4>Purpose</h4>GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments.<h4>Methods</h4>Forty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study.<h4>Results</h4>Classification of 37 distinct variants using American College of Medical Genetics and Genomics criteria resulted in the upgrade of 6 and the submission of 4 new variants. In contrast to type I infantile disease, children with type II had normal or near normal hearing and did not have cherry-red maculae or hepatosplenomegaly. Some older children with juvenile onset disease developed thickened aortic and/or mitral valves. Serial magnetic resonance images demonstrated progressive brain atrophy, more pronounced in late infantile patients. Magnetic resonance spectroscopy showed worsening elevation of myo-inositol and deficit of N-acetyl aspartate that were strongly correlated with scores on the Vineland Adaptive Behavior Scale, progressing more rapidly in late infantile compared with juvenile onset disease.<h4>Conclusion</h4>Serial phenotyping of type II GM1 patients expands the understanding of disease progression and clarifies common misconceptions about type II patients; these are pivotal steps toward more timely diagnosis and better supportive care. The data amassed through this 10-year effort will serve as a robust comparator for ongoing and future therapeutic trials."],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["GM1 gangliosidosis type II: Results of a 10-year prospective study."],"pmcid":["PMC11348282"],"funding_grant_id":["1ZICMH002961","NCT00029965","ZIADC000064","ZIA HG200409","ZIA DC000064","ZIC MH002961","Z01 HG000107","ZIAHG200409","02-HG-0107"],"pubmed_authors":["Acosta MT","Nicoli ER","Buckley A","Han ST","Huang R","King K","Thurm A","Jordan CP","Mojica Algarin Y","Regier DS","Tifft CJ","Brewer C","Solomon B","Farmer C","Quimby R","Myles J","Huryn LA","Adams D","Baker EH","Rothermel CE","Zein W","Hartman AL","Zainab M","Bowden S","Brooks BP","Johnston JM","D'Souza P","Crowell A","Vezina G"],"additional_accession":[]},"is_claimable":false,"name":"GM1 gangliosidosis type II: Results of a 10-year prospective study.","description":"<h4>Purpose</h4>GM1 gangliosidosis (GM1) a lysosomal disorder caused by pathogenic variants in GLB1, is characterized by relentless neurodegeneration. There are no approved treatments.<h4>Methods</h4>Forty-one individuals with type II (late-infantile and juvenile) GM1 participated in a single-site prospective observational study.<h4>Results</h4>Classification of 37 distinct variants using American College of Medical Genetics and Genomics criteria resulted in the upgrade of 6 and the submission of 4 new variants. In contrast to type I infantile disease, children with type II had normal or near normal hearing and did not have cherry-red maculae or hepatosplenomegaly. Some older children with juvenile onset disease developed thickened aortic and/or mitral valves. Serial magnetic resonance images demonstrated progressive brain atrophy, more pronounced in late infantile patients. Magnetic resonance spectroscopy showed worsening elevation of myo-inositol and deficit of N-acetyl aspartate that were strongly correlated with scores on the Vineland Adaptive Behavior Scale, progressing more rapidly in late infantile compared with juvenile onset disease.<h4>Conclusion</h4>Serial phenotyping of type II GM1 patients expands the understanding of disease progression and clarifies common misconceptions about type II patients; these are pivotal steps toward more timely diagnosis and better supportive care. The data amassed through this 10-year effort will serve as a robust comparator for ongoing and future therapeutic trials.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-03T07:28:17.688Z","creation":"2026-04-25T03:22:40.518Z"},"accession":"S-EPMC11348282","cross_references":{"pubmed":["38641994"],"doi":["10.1016/j.gim.2024.101144"]}}