Article
A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.
PloS one - 1 Jan 2013
Morgan Jeremy P, Magee Helen, Wong Andrew, Nelson Tarah, Koch Bettina, Cooper Jonathan D, Weimer Jill M
Abstract excerpt
Neuronal ceroid lipofuscinoses (NCLs; also known collectively as Batten Disease) are a family of autosomal recessive lysosomal storage disorders. Mutations in as many as 13 genes give rise to ∼10 variants of NCL, all with overlapping clinical symptomatology including visual impairment, motor and cognitive dysfunction, seizures, and premature death. Mutations in CLN6 result in both a variant late infantile onset...
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