Batten disease;
Spielmeyer-Vogt disease;
Juvenile neuronal ceroid lipofuscinoses

Batten disease, also known as Juvenile neuronal ceroid lipofuscinoses (JNCL), is an autosomal recessive lysosomal disease. It manifests with vision loss, followed by seizures and progressive neurodegeneration, robbing children of motor skills, speech and cognition, and eventually leading to death in the second or third decade of life. Loss-of-function mutations in CLN3 are responsible for Batten disease.

Inherited metabolic disorder, Lysosomal disease

CLN3 [HSA:1201] [KO:K12389]

Although Batten disease is usually regarded as JNCL, some physicians use the term Batten disease to describe all forms of NCL.

PMID:22545070

PMID:24014508

PMID:9004140