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 +9 more sources
Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation. [PDF]
Acta Ophthalmol, 2021 AbstractPurposeTo help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early‐onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequate referral, counselling and rehabilitation.MethodsMedical chart review of 38 children who were ...
Kuper WFE +7 more
europepmc +6 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
Recognition and epileptology of protracted CLN3 disease. [PDF]
Epilepsia, 2023 AbstractObjectiveThis study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder.MethodsWe analyzed phenotypic data of 10 patients from six families with protracted CLN3 disease.
Cameron JM +10 more
europepmc +4 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
Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) [PDF]
Journal of Neurodevelopmental DisordersBackground We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of “duration” processing.
Tufikameni Brima +9 more
doaj +2 more sources
Reversible synaptic deficits in early-stage batten disease [PDF]
Journal of Translational MedicineBackground Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3. Progressive cognitive decline is characteristic clinical feature,
Masood Ahmad Wani +4 more
doaj +2 more sources
Juvenile CLN3 disease is a lysosomal cholesterol storage disorder: similarities with Niemann-Pick type C disease. [PDF]
EBioMedicine, 2023 Chen J +12 more
europepmc +2 more sources
A diagnostic confidence scheme for CLN3 disease. [PDF]
J Inherit Metab Dis, 2021 AbstractOver the past 20 years, diagnostic testing for genetic diseases has evolved, leading to variable diagnostic certainty for individuals included in long‐term natural history studies. Using genotype and phenotype data from an ongoing natural history study of CLN3 disease, we developed a hierarchical diagnostic confidence scheme with three major ...
Masten MC +8 more
europepmc +3 more sources
Brain proton MR spectroscopy measurements in CLN3 disease. [PDF]
Mol Genet Metab, 2023 CLN3 is an autosomal recessive lysosomal disorder with intracellular accumulation of ceroid-lipofuscins. CLN3 classically has onset around 4-6 years of age involving vision loss, followed by developmental regression and seizures. Symptoms are progressive and result in premature death.
Dang Do AN +5 more
europepmc +3 more sources