Batten disease is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCL). There are four forms of NCL, including two forms that begin earlier in childhood and a very rare form that strikes adults.
The first type is Infantile NCL (Santavuori-Haltia disease), caused by a mutation of the gene CLN1 and begins between 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. These children usually die before age 5, although some have survived in a vegetative state a few years longer.
The second type is Late Infantile NCL (Jansky-Bielschowsky disease), caused by a mutation of the gene CLN2 and begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between ages 8 and 12.
The third type, Juvenile NCL (Spielmeyer-Vogt-Sjogren-Batten disease), is caused by a mutation in the gene CLN3 and usually appears between the ages of 5 and 10 and may include vision problems, seizures, personality and behavior changes, slow learning, or clumsiness. Over time, these children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. The disease is usually fatal by late teens or twenties. (An adult NCL disorder called Kufs disease or Parry’s disease, generally begins before the age of 40, causes milder symptoms that progress slowly, and does not cause blindness.)
Childhood NCLs are autosomal recessive disorders that are linked to a buildup of substances called lipofuscins (lipopigments) in the body’s tissues. These lipopigments are made up of fats and proteins that build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.