Batten disease

Definition:

Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. Loss-of-function mutations in CLN3 are responsible for Batten disease.

References:

[1]. Heather R Adams, et al. Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). J Child Neurol. 2013 Sep;28(9):1128-36. [Content Brief]

[2]. I Järvelä, et al. Rapid diagnostic test for the major mutation underlying Batten disease. J Med Genet. 1996 Dec;33(12):1041-2. [Content Brief]

[3]. Susan L Cotman, et al. The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clin Lipidol. 2012 Feb;7(1):79-91. [Content Brief]

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