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Experimental Treatment for Batten Disease Shows Promise

Bridget M. Kuehn, MSJ
JAMA. 2013;310(20):2140. doi:10.1001/jama.2013.283507.
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A compound has shown promise as a potential treatment for Batten disease, a rare neurodegenerative disorder, in cell and mice studies, according to a study funded by the Eunice Shriver Kennedy National Institute of Child Health and Human Development.

About 1 in 12 500 infants is born with a form of neuronal ceroid lipofuscinosis (NCL), which is also called Batten disease, according to the study’s authors (Sarkar C et al. Nat Neurosci. doi:10.1038/nn.3526 [published online September 22, 2013]). The disease develops when a mutation inactivates a gene that cleaves a linkage on palmitoylated proteins. This prevents lysosomal hydrolases from breaking down the proteins, causing a buildup of lysosomal ceroids, with neurotoxic effects. Children who are born with NCL develop progressive psychomotor delays by about 12 to 18 months of age. These delays progress to blindness by age 2 years, loss of most brain activity by age 4 years, and eventual death during childhood, after years in a vegetative state.

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