About 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 NCL).

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 and have the same basic cause, progression and outcome but are all genetically different, meaning each is the result of a different gene. 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, it is always fatal.

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

What are the forms of NCL/Batten Disease?

There are four main types of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults. The symptoms are similar but the forms become apparent at different ages and progress at different rates.

  • Infantile NCL (Santavuori-Haltia disease) begins between about 6 months and 2 years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. Initial signs of this disorder include delayed psychomotor development with progressive deterioration, other motor disorders, or seizures. The Infantile form has the most rapid progression and children live into their mid-childhood years.
  • Adult NCL (Kufs disease or Parry disease) generally begins before the age of 40, causes milder symptoms that progress slowly, and does not cause blindness. Although age of death is variable among affected individuals, this form does shorten life expectancy.

How many people have these disorders?

Batten disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States, but no one really knows how many affected children there may be in North America or anywhere else in the world. The diseases have been identified worldwide. Although NCLs are classified as rare diseases, they often strike more than one person in families that carry the defective gene.

How are NCLs inherited?


Adult NCL may be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parry) disorder. In autosomal dominant inheritance, all people who inherit a single copy of the disease gene develop the disease. As a result, there are no unaffected carriers of the gene.