About Batten

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 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 it is presently always fatal. Batten Disease is not contagious or, at this time, preventable.

What are the forms of NCL/Batten diaease?:
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 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 it is presently always fatal. Batten Disease is not contagious or, at this time, preventable.

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 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 NCL’s inherited?:
Childhood NCLs are autosomal recessive disorders; that is, they occur only when a child inherits two copies of the defective gene, one from each parent. When both parents carry one defective gene, each of their children faces one in four chance of developing NCL. At the same time, each child also faces a one in two chance of inheriting just one copy of the defective gene. Individuals who have only one defective gene are known as carriers, meaning they do not develop the disease, but they can pass the gene on to their own children.

Adult NCL may be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parrys) 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.

What causes these diseases?:
Symptoms of Batten Disease/NCLs are linked to a buildup of substances called lipopigments in the body’s tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for “lipid” or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope.

The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. Inside the cells, these pigments form deposits with distinctive shapes that can be seen under an electron microscope. Some look like half-moons (or comas) and are called curvilinear bodies, others look like fingerprints and are called fingerprint inclusion bodies and still others resemble gravel (or sand) and are called granual osmophilic deposits (GRODS).
These deposits are what doctors look for when they examine a skin sample to diagnose Batten Disease. The diseases cause death of neurons (specific cells found in the brain, retina and central nervous system). The reason for neuron death is still not known.

How are these diseases diagnosed?:
Diagnostic tests used for Batten Disease/NCLs include:
Skin or tissue sampling. The doctor can examine a small piece of tissue under an electron microscope. The powerful magnification of the microscope helps the doctor spot typical NCL deposits. These deposits are found in many different tissues, including skin, muscle, conjunctiva, rectal and others. Blood can also be used. See inclusion body pictures in question above.
Electroencephalogram or EEG. An EEG uses special patches placed on the scalp to record electrical currents inside the brain. This helps doctors see telltale patterns in the brain’s electrical activity that suggest a patient has seizures.
Electrical studies of the eyes. These tests, which include visual-evoked responses (VER) and electro-retinagrams (ERG), can detect various eye problems common in childhood Batten Disease/NCLs.
Brain scans. Imaging can help doctors look for changes in the brain’s appearance. The most commonly used imaging technique is computed tomography (CT), which uses x-rays and a computer to create a sophisticated picture of the brain’s tissues and structures. A CT scan may reveal brain areas that are decaying in NCL patients. A second imaging technique that is increasingly common is magnetic resonance imaging, or MRI. MRI uses a combination of magnetic fields and radio waves, instead of radiation, to create a picture of the brain.
Enzyme assay. A recent development in diagnosis of Batten Disease/NCL is the use of enzyme assays that look for specific missing lysosomal enzymes for Infantile and Late Infantile only. This is a quick and easy diagnostic test. Genetic/DNA testing. Each ‘form’ of Batten disease is the result of a different gene. Genes for eight of the ten forms have been identified. Testing for these is available for diagnosis as well as carrier and prenatal status.

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.

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.

To learn more about research and any current clinical trials go to “Research and Clinical News” and “Clinical Trials” under the NEWSCENTER tab of this website.

What research is being done?:
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.

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.

To learn more about research and any current clinical trials go to “Research and Clinical News” and “Clinical Trials” under the NEWSCENTER tab of this website.

For more info:
Batten Disease Support and Research Association
166 Humphries Dr.
Reynoldsburg, OH 43068
800-448-4570 or 740-927-4298
E-mail: bdsra1@bdsra.org

Institute for Basic Research in Developmental Disabilities
1050 Forest Hill Road
Staten Island,
New York 10314
(718) 494-0600

The Institute for Basic Research in Developmental Disabilities, part of the New York state government, conducts research on NCL and maintains the National Batten Disease Registry which supports scientific efforts by identifying and gathering information about those individuals who have Batten Disease/NCL and by providing epidemiological and clinical data.

For more information on research programs of the NINDS, contact:
Office of Scientific and Health Reports Neurological Institute
P.O. Box 5801
Bethesda, Maryland 20824
(301) 496-5751
(800) 352-9424

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