Neuronal Ceroid-Lipofuscinoses (INCL)

Neuronal Ceroid-Lipofuscinoses, also known as infantile neuronal ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 6a and ceroid lipofuscinosis, neuronal, 6b, and has symptoms including myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid-Lipofuscinoses is PPT1 (Palmitoyl-Protein Thioesterase 1), and among its related pathways/superpathways is Fatty acyl-CoA biosynthesis. The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are spasticity and developmental regression