Article
Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.
PloS one - 1 Jan 2015
Sawiak Stephen J, Perumal Sunthara Rajan, Rudiger Skye R, Matthews Loren, Mitchell Nadia L, McLaughlan Clive J, Bawden C Simon, Palmer David N, Kuchel Timothy, Morton A Jennifer
Abstract excerpt
Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration. It starts insidiously and leads to blindness, epilepsy and dementia in affected children. Sheep that are homozygous for a natural mutation in CLN6 have an ovine form of Batten disease Here, we used in vivo...
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