Results 11 to 20 of about 23,160 (290)

Identification of α-fetoprotein as an autoantigen in juvenile Batten disease

Neurobiology of Disease, 2008
Humoral autoimmunity against glutamic acid decarboxylase has been described in juvenile Batten disease patients and in the Cln3−/− mouse model. To obtain a more comprehensive understanding of the repertoire of antigens targeted, we examined the ...
Julian A. Castaneda, David A. Pearce
doaj   +3 more sources

Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease

Neurobiology of Disease, 2006
Batten disease, a lysosomal storage disorder, is caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3−/−) mouse model of the disease exhibits many characteristic pathological features of the human disorder.
Attila D. Kovács, Jill M. Weimer, David A. Pearce   +2 more
doaj   +3 more sources

The Wechsler intelligence scale for children, fourth and fifth editions perform comparably in children with Batten disease [PDF]

Orphanet Journal of Rare Diseases
Background 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, Erika F. Augustine, Kristen Bonifacio, Alyssa Collins, Amy E. Vierhile, Jonathan W. Mink   +5 more
doaj   +2 more sources

Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics

Neurobiology of Disease, 2017
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are
Hannah L Best, Nicole J Neverman, Hollie E Wicky, Nadia L Mitchell, Beulah Leitch, Stephanie M Hughes   +5 more
doaj   +3 more sources

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   +3 more sources

Phenotypes of Juvenile Batten Disease

Pediatric Neurology Briefs, 1999
The phenotypes of 10 Finnish juvenile neuronal ceroid lipofuscinosis (JNCL; late-onset Batten disease) patients were correlated with the genotypes in a study at Helsinki University, Finland; and the Rayne Institute, University College, London, UK.
J Gordon Millichap
doaj   +3 more sources

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, Rachel A. Hansen, Michael E. Ward, Stephanie M. Hughes   +3 more
doaj   +1 more source

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease) [PDF]

, 2016
The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children.
A Destexhe, A Schulz, A Shahwan, AA Zdebik, AD Kovacs, AD Kovacs, AD Kovacs, Anselm A. Zdebik, C Follo, C He, C Verity, C Wittmann, CC Pontikis, CC Pontikis, Claire Russell, D Kokel, DA Persaud-Sawin, DE Sleat, DN Palmer, DN Palmer, E Fossale, F Mahmood, F Mahmood, Filippo Del Bene, GW Anderson, HC Park, HH Goebel, HM Mitchison, J Carcel-Trullols, J Groh, J Tyynela, JJ Shacka, JM Holopainen, JM Vidal-Donet, Jonathan D. Cooper, JR Mathias, JR Ostergaard, K Wager, K Wager, Kim Wager, L Aberg, L Saint-Amant, M Bond, M Granato, M Haltia, MJ Hendzel, NJ Neverman, R Martin-Jimenez, RD Jolly, RJ Heath, RM Boustany, RM Boustany, Robert J. Harvey, SE Mole, Sonia Fu, SS Gerety, SS Seehafer, TG Kuhl, V Sallinen, V Warrier, X Lojewski   +60 more
core   +12 more sources

Impact of the COVID-19 pandemic on access to the cerliponase alfa managed access agreement in England for CLN2 treatment

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, Eva M. Raebel, Samantha Wiseman   +2 more
doaj   +1 more source

Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations

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