CommentaryMoving towards therapies for Juvenile Batten disease?
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Cited by (20)
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs
2019, Molecular Genetics and MetabolismCitation Excerpt :Progress in developing treatments for the NCLs has been hampered by the lack of adequate animal models. Transgenic mouse models have been made for most of the NCLs, but many of these models fail to recapitulate the human disease phenotype and therapies tested in these models have not translated to human application [3–32]. Large animal models with nervous systems more similar to those of humans in size and complexity are likely to be more suitable for therapy development.
NCL disease mechanisms
2013, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCitation Excerpt :Other biochemical investigations include reports of deficits in oxidative phosphorylation, which have not been substantiated, principal component analysis of the neuroactive amino acid concentrations in mouse and sheep models and analysis of circulating antibodies. Excitotoxicity was postulated to be involved in pathology of the NCLs some time ago [62,63], and could represent a therapeutic target [64]. Populations of γ-aminobutyric acid (GABA)ergic interneurons have been shown to be affected in human, sheep and mouse NCLs [65–69].
Juvenile neuronal ceroid lipofuscinosis and education
2013, Biochimica et Biophysica Acta - Molecular Basis of DiseaseCitation Excerpt :It is characterized by a severe loss of vision which becomes noticeable around age 4–8 years, with a developmental course that includes blindness, epilepsy, speech problems, cognitive regression, motor coordination problems, and emotional reactions, including anxiety and depression. There is no cure yet and the disease leads to premature death [1,2,8,9]. A considerable number of articles and books have been published on JNCL since Stengel [10] in 1826 described the course of the disease in four siblings in a small Norwegian town, Røros [2,6].
Neuronal Ceroid Lipofuscinosis
2010, Encyclopedia of Movement Disorders, Three-Volume SetNeuronal Ceroid Lipofuscinosis
2010, Encyclopedia of Movement DisordersNeuronal ceroid lipofuscinoses
2009, Biochimica et Biophysica Acta - Molecular Cell Research