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pubmed-article:21118105pubmed:issue6lld:pubmed
pubmed-article:21118105pubmed:dateCreated2010-12-1lld:pubmed
pubmed-article:21118105pubmed:abstractTextThe NCLs (neuronal ceroid lipofuscinoses) (also known as Batten disease) are a group of at least ten fatal inherited storage disorders. Despite the identification of many of the disease-causing genes, very little is known about the underlying disease mechanisms. However, now that we have mouse or large-animal models for most forms of NCL, we can investigate pathogenesis and compare what happens in the brain in different types of the disease. Broadly similar neuropathological themes have emerged, including the highly selective nature of neuron loss, early effects upon the presynaptic compartment, together with an early and localized glial activation. These events are especially pronounced within the thalamocortical system, but it is clear that where and when they occur varies markedly between different forms of NCL. It is now becoming apparent that, despite having pathological endpoints that resemble one another, these are reached by a sequence of events that is specific to each subtype of NCL.lld:pubmed
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pubmed-article:21118105pubmed:issn1470-8752lld:pubmed
pubmed-article:21118105pubmed:authorpubmed-author:CooperJonatha...lld:pubmed
pubmed-article:21118105pubmed:issnTypeElectroniclld:pubmed
pubmed-article:21118105pubmed:volume38lld:pubmed
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pubmed-article:21118105pubmed:pagination1448-52lld:pubmed
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pubmed-article:21118105pubmed:year2010lld:pubmed
pubmed-article:21118105pubmed:articleTitleThe neuronal ceroid lipofuscinoses: the same, but different?lld:pubmed
pubmed-article:21118105pubmed:affiliationPediatric Storage Disorders Laboratory, Department of Neuroscience and Centre for the Cellular Basis of Behaviour, James Black Centre, Institute of Psychiatry, King's College London, 125 Coldharbour Lane, London SE5 9NU, UK. jon.cooper@kcl.ac.uklld:pubmed
pubmed-article:21118105pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:21118105pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
pubmed-article:21118105pubmed:publicationTypeResearch Support, N.I.H., Extramurallld:pubmed