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- W2008657708 abstract "The neuronal ceroid lipofuscinoses (also known as Batten disease) are a group of devastating inherited paediatric neurodegenerative diseases for which no curative treatment is available. 1 The neuronal ceroid lipofusinoses (Batten disease). in: Mole SE Williams RE Goebel HH 2nd edn. Oxford University Press, Oxford2011 Crossref Google Scholar Substantial challenges exist regarding basic biology (since the function of many of the genes associated with this diseases is not known) and therapeutic development. However, the first clinical trials of different treatment approaches are now beginning to yield results (table). The pilot study 2 Levin WS Baker EH Zein WM et al. Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. Lancet Neurol. 2014; (published online July 3.)http://dx.doi.org/10.1016/S1474-4422(14)70142-5 PubMed Google Scholar reported by Anil Mukherjee and colleagues in The Lancet Neurology was started more than a decade ago. It assesses whether a combination of cysteamine bitartrate (cystagon) and N-acetylcysteine is beneficial to children with one type of neuronal ceroid lipofuscinosis, infantile CLN1 disease. Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot studyOur findings suggest that combination therapy with cysteamine bitartrate and N-acetylcysteine is associated with delay of isoelectric EEG, depletion of GRODs, and subjective benefits as reported by parents and physicians. Our systematic and quantitative report of the natural history of patients with infantile neuronal ceroid lipofuscinosis provides a guide for future assessment of experimental therapies. Full-Text PDF" @default.
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- W2008657708 date "2014-08-01" @default.
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- W2008657708 title "Development of new treatments for Batten disease" @default.
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- W2008657708 doi "https://doi.org/10.1016/s1474-4422(14)70151-6" @default.
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