Results 11 to 20 of about 6,754 (244)
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
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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
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Therapeutic Advances in Rare Disease, 2021 The COVID-19 pandemic transformed the delivery of healthcare across the world. Telehealth has emerged as the primary method for providing healthcare early in the pandemic.
Jessica F. Scherr +2 more
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The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease [PDF]
Orphanet Journal of Rare DiseasesBackground The neuronal ceroid lipofuscinoses (Batten disease) are rare neurodegenerative lysosomal storage diseases principally of childhood onset and an autosomal recessive inheritance pattern. Cognitive regression is a hallmark of the disease, and has
Heather R. Adams +5 more
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Deficiency of the Lysosomal Protein CLN5 Alters Lysosomal Function and Movement
Biomolecules, 2021 Batten disease is a devastating, childhood, rare neurodegenerative disease characterised by the rapid deterioration of cognition and movement, leading to death within ten to thirty years of age.
Indranil Basak +3 more
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Orphanet Journal of Rare Diseases, 2022 Background Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA).
Amanda Mortensen +2 more
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American Journal of Ophthalmology Case Reports, 2022 Purpose: To illustrate the potential diagnostic confusion between Batten disease and Stargardt disease created by associated signs and symptoms. Observations: A six-year-old girl with vision loss and prominent behavioral changes and overlooking was ...
Michael C. Brodsky, Arlene Drack
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse
Katherine A. White +14 more
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Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease
Neurobiology of Disease, 1999 Batten disease, a degenerative neurological disorder with juvenile onset, is the most common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause Batten disease.
Hannah M. Mitchison +13 more
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Scientific Reports, 2022 We recently demonstrated that HCl-acidified drinking water, which is widely used in laboratory animal facilities, had some beneficial effects in the Cln3 −/− mouse model of juvenile Batten disease, a neurodegenerative lysosomal storage disorder1. Here we
Attila D. Kovács +3 more
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