Results 41 to 50 of about 5,834 (144)

A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

Frontiers in Genetics, 2021
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized by neurodegeneration, progressive cognitive decline, motor impairment, ataxia, loss of vision ...
Paschalis Nicolaou, Paschalis Nicolaou, George A. Tanteles, George A. Tanteles, Christina Votsi, Christina Votsi, Eleni Zamba-Papanicolaou, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Savvas S. Papacostas, Kyproula Christodoulou, Kyproula Christodoulou, Yiolanda-Panayiota Christou, Yiolanda-Panayiota Christou   +13 more
doaj   +1 more source

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report

Frontiers in Neurology, 2022
Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases.
Giancarlo Todiere, Stefania Della Vecchia, Maria Aurora Morales, Andrea Barison, Ivana Ricca, Alessandra Tessa, Elisa Colombi, Filippo Maria Santorelli   +7 more
doaj   +1 more source

Discovery of a CLN7 model of Batten disease in non-human primates

Neurobiology of Disease, 2018
We have identified a natural Japanese macaque model of the childhood neurodegenerative disorder neuronal ceroid lipofuscinosis, commonly known as Batten Disease, caused by a homozygous frameshift mutation in the CLN7 gene (CLN7−/−).
Jodi L. McBride, Martha Neuringer, Betsy Ferguson, Steven G. Kohama, Ian J. Tagge, Robert C. Zweig, Laurie M. Renner, Trevor J. McGill, Jonathan Stoddard, Samuel Peterson, Weiping Su, Larry S. Sherman, Jacqueline S. Domire, Rebecca M. Ducore, Lois M. Colgin, Anne D. Lewis   +15 more
doaj   +1 more source

Clinical, MRI, and Genetic Findings in Batten Disease

Pediatric Neurology Briefs, 1998
The correlation of clinical, MRI and genetic factors in 36 patients with Batten disease (juvenile-onset neuronal ceroid lipofuscinosis) followed up for 25 years is reported from the Department of Paediatric Neurology, University of Helsinki, Finland, and
J Gordon Millichap
doaj   +1 more source

A yeast model for the study of Batten disease [PDF]

Proceedings of the National Academy of Sciences, 1998
Although the CLN3 gene for Batten disease, the most common inherited neurovisceral storage disease of childhood, was identified in 1995, the function of the corresponding protein still remains elusive. We previously cloned the Saccharomyces cerevisiae homologue to the human CLN3
D A, Pearce, F, Sherman
openaire   +2 more sources

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +1 more source

Batten Disease: Four Genes and Still Counting

Neurobiology of Disease, 1998
The neuronal ceroid lipofuscinoses (NCLs, also known as Batten disease) are the most common childhood neurodegenerative disease. They are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent storage ...
Sara E. Mole
doaj   +1 more source

Utilizing telehealth to create a clinical model of care for patients with Batten disease and other rare diseases

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, Charles Albright, Emily de los Reyes   +2 more
doaj   +1 more source

CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease [PDF]

Brain, 2004
Batten disease is a severe autosomal recessive neurodegenerative disease which results from mutations in CLN3. Although the gene was cloned in 1995, the tissue distribution and subcellular localization of the CLN3 protein (CLN3P) remains inconclusive. We have demonstrated the presence of a novel 33 kDa protein in both normal human and wild-type mouse ...
Srinivas B, Narayan, Johanne V, Pastor, Hannah M, Mitchison, Michael J, Bennett   +3 more
openaire   +2 more sources

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

G3: Genes, Genomes, Genetics, 2020
A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were ...
Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons   +6 more
doaj   +1 more source