Ceroid Lipofuscinosis, Neuronal, 1 (CLN1)

Ceroid Lipofuscinosis, Neuronal, 1, also known as neuronal ceroid lipofuscinosis 1, is related to ceroid lipofuscinosis, neuronal, 3 and ceroid lipofuscinosis, neuronal, 6b, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 1 is PPT1 (Palmitoyl-Protein Thioesterase 1), and among its related pathways/superpathways are Ciliary landscape and Fatty acyl-CoA biosynthesis. The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are vascular granular osmiophilic material deposition and psychomotor deterioration