Childhood-onset striatonigral degeneration (SNDC) is an abrupt onset progressive neurological disorder with regression of developmental milestones. Characteristic MRI findings as degenerative changes in basal ganglia and periventricular region are noted in some patients. It has been reported that mutations in VAC14 cause this disease. VAC14 is a dimeric protein involved in intracellular vesicle transport through the endolysosome pathway. It regulates biosynthesis of phosphatidylinositol 3,5-bisphosphate that is critical for the survival of neural cells.
