Batten Disease FAQ

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 it is presently 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 they 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.

•Late Infantile NCL (Jansky-Bielschowsky disease): begins between ages 2 and 4. The typical early signs are loss of muscle coordination (ataxia) and seizures along with progressive mental deterioration.. This form progresses rapidly and ends in death between ages 8 and 12.

•Juvenile NCL (Batten Disease): begins between the ages of 5 and 8 years of age. The typical early signs are progressive vision loss, seizures, ataxia or clumsiness. This form progresses less rapidly and ends in death in the late teens or early 20s, although some may live into their 30s.

•Adult NCL (Kufs Disease or Parry’s 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.

There are six additional diseases included in the Batten Disease/NCL group:

•Finnish Late Infantile – identified in Finland.
•Variant Late Infantile – identified in Costa Rica, South America, Portugal and other nations.
•Turkish Late Infantile – identified in Turkey.
•Northern Epilepsy/ERMP – Epilepsy with Mental Retardation – identified in Finland.
•Variant Juvenile – identified in Germany and USA.
•Congenital/CTSD – identified in Europe

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. 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.

Is there any treatment?
As yet, no specific treatment is known that can halt or reverse the symptoms of Batten Disease/NCL. However, seizures can be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy may help patients retain function as long as possible.

Some reports have described a slowing of the disease in children with Batten Disease who were treated with vitamins C and E and with diets low in vitamin A. However, these treatments did not prevent the fatal outcome of the disease.

Support and encouragement can help children and families cope with the profound disability and losses caused by NCLs. The Batten Disease Support and Research Association enables affected children, adults, and families to share common concerns and experiences. Meanwhile, scientists pursue medical research that will someday yield an effective treatment.

Scientists are working on developing therapies. There are both ongoing and developing clinical trials.

What research is being done?
Within the Federal Government, the focal point for research on Batten Disease and other neurogenetic disorders is the National Institute of Neurological Disorders and Stroke (NINDS). The NINDS, a part of the National Institutes of Health (NIH), is responsible for supporting and conducting research on the brain and central nervous system. The Batten Disease Support and Research Association and the Children’s Brain Diseases Foundation also provide financial assistance for research.

Through the work of several scientific teams, the search for the genetic cause of NCLs is gathering speed. In September 1995, The International Batten Disease Consortium announced the identificatiion of the gene for the juvenile form of Batten Disease. The specific gene, CLN3, located on Chromosome 16, has a deletion or piece missing. This gene accounts for 73% of all cases of Juvenile Batten Disease. The rest are the result of other defects of the same gene.

Also, in 1995, scientists in Finland announced the identification of the gene responsible for the infantile form of Batten Disease. The gene, CLN1, is located on Chromosome 1.

In September 1997, scientists at the Robert Woos Johnson Medical School and the Institute for Basic Research, NY, announced the identification of the gene for the “classic” Late Infantile form of Batten Disease/NCL. The gene, CLN2, is located on chromosome 11.

Scientists have also identified the genes responsible for Finnish Late Infantile (CLN5), variant Late Infantile (CLN6), EPMR (CLN8) and Congenital/CTSD (CLN10). Research also continues toward identification of the gene for the adult form of Batten Disease/NCL, also known as Kufs Disease.

Identification of the specific genes for Infantile, Late Infantile, Variant Late Infantile and Juvenile Batten Disease/NCL has led to the development of DNA diagnostics, carrier and prenatal tests.

Scientists have discovered that the Infantile and Late Infantile diseases are missing key lysosomal enzymes, i.e. Palmitoyl Protein Thioesterase 1 (PPT1) for Infantile and Tripeptidyl Peptidase 1 (TPP1) for Late Infantile. Knowing that these enzymes are missing is now leading to the development of gene replacement and stem cell transplantation therapies.

Recent studies have shown a link between the Juvenile form and the body’s autoimmune system. Although this link is not yet fully understood, it may eventually lead to a treatment.

Currently there is a drug trials underway for Infantile Batten Disease/NCL. This trials is using a drug by the name of Cystagon. For additional information regarding this trial, contact BDSRA at 1-800-448-4570.

*All information on this page was taken directly from the Batten Disease Support and Research Association. Please visit their website for more information about this disaese. www.bdsra.org