The Australian Chapter of BDSRA

There are four main types of NCL, including a very rare form that affects adults. The symptoms of all types are similar but they become apparent at different ages and progress at different rates.   

Infantile NCL: (Santavuori-Haltia type) 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. Patients usually die before age 5, although some have survived a few years longer.

Late infantile NCL: (Jansky-Bielschowsky type) begins between ages 2 and 4. The typical early signs are loss of muscle co-ordination (ataxia) and seizures that do not respond to anticonvulsant drugs. This form progresses fairly rapidly and children live to between the ages 6 and 12.

Juvenile NCL: (Spielmeyer-Vogt-Sjogren Batten type) begins between the ages of 5 to 10. The most frequent beginning symptom is visual failure, less common are seizures. Motor disturbances occur late in the disease. After a slowly progressive course patients usually live to late teens, early 20’s or more rarely, into their 30’s.

Adult NCL: (Kufs or Parry’s type) 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.

Other Types: Some children who definitely have Batten disease don't fall into any of the patterns described above. About 1 in 10 cases are not typical of any of these groups of children. In some the disease progresses more quickly and in some slower.