NIH
Zebra of the Week: Juvenile neuronal ceroid lipofuscinosis (Batten disease)
Batten disease, also known as juvenile neuronal ceroid lipofuscinosis (JNCL), is a group of rare, inherited neurodegenerative disorders that typically begin in childhood. JNCL is caused by mutations of CLN3, a gene that encodes a hydrophobic transmembrane protein, which localizes to membrane lipid rafts in lysosomes, endosomes, synaptosomes, and cell membranes. The absence of the CLN3 protein affects numerous cellular functions, including pH regulation, arginine transport, membrane trafficking, and apoptosis. CLN3 disease is a rare neurodegenerative disease causing not only vision loss and decline in cognitive and motor skills but also altered behavior and emotions. Declines in physical and cognitive skills give rise to certain emotions and behaviors that differ for each individual, although general characteristics can be found. Children with Batten disease may appear healthy initially but gradually lose their ability to see, move, and communicate. Currently, there is no cure, but treatments like cerliponase alfa may help slow the progression of certain forms of the disease.
Sources:
NIH GARD. (Accessed 2025, March 24). Juvenile neuronal ceroid lipofuscinosis. https://rarediseases.info.nih.gov/diseases/4938/juvenile-neuronal-ceroid-lipofuscinosis
National Institute of Neurological Disorders and Stroke. (Accessed 2025, March 24). Neuronal Ceroid Lipofuscinosis (Batten Disease). https://www.ninds.nih.gov/health-information/disorders/neuronal-ceroid-lipofuscinosis-batten-disease