Article
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Current pharmaceutical biotechnology - 1 Jun 2011
Kohan R, Cismondi I A, Oller-Ramirez A M, Guelbert N, Anzolini Tapia V, Alonso G, Mole S E, de Kremer Dodelson R, de Halac Noher I
Abstract excerpt
The Neuronal Ceroid Lipofuscinoses (NCLs) are lysosomal storage diseases (LSDs) affecting the central nervous system (CNS), with generally recessive inheritance. They are characterized by pathological lipofuscin-like material accumulating in cells. The clinical phenotypes at all onset ages show progressive loss of vision, decreasing cognitive and motor skills, epileptic seizures and premature death, with dementia...
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