Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease [PDF]
Frontiers in Genetics, 2023 CLN3 disease, caused by biallelic mutations in the CLN3 gene, is a rare pediatric neurodegenerative disease that has no cure or disease modifying treatment. The development of effective treatments has been hindered by a lack of etiological knowledge, but
Tyler B. Johnson +19 more
doaj +2 more sources
Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease). [PDF]
PLoS ONE, 2016 The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children.
Kim Wager +5 more
doaj +8 more sources
Timing of cognitive decline in CLN3 disease. [PDF]
J Inherit Metab Dis, 2018 AbstractBackgroundCLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease.MethodsEarly neurocognitive functioning
Kuper WFE +5 more
europepmc +6 more sources
The CLN3 Disease Staging System: A new tool for clinical research in Batten disease. [PDF]
Neurology, 2020 To develop a disease-specific staging system for CLN3 disease and to test the hypothesis that salient and discrete clinical features of CLN3 disease may be used to define disease stages by analyzed data from an 18-year-long natural history study.A proposed staging system, the CLN3 Staging System (CLN3SS), was based on salient and clinically meaningful ...
Masten MC +8 more
europepmc +4 more sources
Downregulation of AKT-mediated p27Kip1 phosphorylation with shift to sphingomyelin synthesis in CLN3 disease [PDF]
IBRO Neuroscience ReportsCLN3 disease is a fatal childhood neurodegenerative disorder without drug-modifying therapies. Wild-type CLN3 gene is anti-apoptotic. Previous work proves that CLN3 disease pathogenesis is associated with reduced cell viability/apoptotic cell death and ...
Fatima Bilal +7 more
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The parent and family impact of CLN3 disease: an observational survey-based study [PDF]
Orphanet Journal of Rare DiseasesBackground CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3.
Angela Schulz +5 more
doaj +2 more sources
Impact of CLN3 Disease on Child Quality of Life and Family Function. [PDF]
Pediatr NeurolCLN3 disease is a rare inherited neurodegenerative disease that typically starts in childhood. Given the progressive nature of the disease, it likely affects the health-related quality of life (HRQOL) of both the child and the family unit. In this study, we evaluated HRQOL and family function in individuals with CLN3 disease and their families.Data ...
Vermilion J +6 more
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Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease [PDF]
Orphanet Journal of Rare DiseasesBackground Low-vision rehabilitative support for children with multiple-disability conditions is underexplored. We conduct a pilot study of an assistive device in children with CLN3 disease, a multisystemic pediatric blindness and neurodegenerative ...
Thuy Tien Nguyen +13 more
doaj +2 more sources
Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease [PDF]
Scientific Reports, 2021 Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3. The btn1 gene is the Schizosaccharomyces pombe orthologue of CLN3.
Christopher J. Minnis +6 more
doaj +2 more sources
Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response [PDF]
Journal of Biomedical ScienceBackground CLN3 Batten disease is a severe pediatric neurodegenerative disorder caused by mutations in the CLN3 gene, most commonly a 1 kb deletion encompassing exons 7 and 8.
Mingyi Yang +12 more
doaj +2 more sources