What is Batten Disease?

Batten Disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten Disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (or NCLs). Although Batten Disease is usually regarded as the juvenile form of NCL, it has now become the term to encompass all forms of NCL. The forms of NCL are classified by age of onset have the same basic cause, progression and outcome but are all genetically different.

Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten Disease/NCL become blind, bedridden, and unable to communicate and presently is always fatal.

Batten Disease is not contagious or, at this time, preventable.

History of Neuronal Ceroid Lipofuscinosis

The first probable instances of this condition were reported in 1826 in a Norwegian medical journal by Dr. Christian Stengel, who described 4 affected siblings in an small mining community in Norway. Although no pathological studies were performed on these children the clinical descriptions are so succinct that the diagnosis of the Spielmeyer-Sjogren (juvenile) type is fully justified.