Batten disease

Batten disease is a fatal disorder of the nervous system that typically begins in childhood, with symptoms usually appearing between the ages of 5 and 10. It is often inherited in an autosomal recessive pattern. The name is used as the common label for a group of disorders called the neuronal ceroid lipofuscinoses, although some physicians reserve it for the juvenile form, sometimes called type 3, while others apply it to every form. Historically the neuronal ceroid lipofuscinoses were sorted by age of onset into infantile, late infantile, juvenile and adult types. At least twenty genes have been linked to the condition, and the juvenile form, the most prevalent, is tied to mutations in the CLN3 gene, which encodes the protein battenin. The incidence is given as high as one in 12,500 live births, and the disease was first described in 1903.