What is Batten Disease?
Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10,
when parents or physicians may notice a previously normal child has begun to
develop vision problems or seizures. In some cases, the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling. Symptoms of Batten disease are linked to a buildup of substances called lipopigments in the body's tissues. Lipopigments are made up of fats and proteins. Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. Often, an eye specialist or other physician may refer the child to a neurologist. Diagnostic tests for Batten disease include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans.
Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.
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, some physicians use the term Batten disease to describe all forms of NCL.
Is there any treatment?
As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help patients retain functioning as long as possible.
What is the prognosis?
Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease become blind, bedridden, and demented. Batten disease is often fatal by the late teens or twenties.
What research is being done?
The biochemical defects that underlie several NCLs have recently been discovered. An enzyme called palmitoyl-protein thioesterase has been shown to be insufficiently active in the infantile form of Batten disease (this condition is now referred to as CLN1). In the late infantile form (CLN2), a deficiency of an acid protease, an enzyme that hydrolyzes proteins, has been found as the cause of this condition. A mutated gene has been identified in juvenile Batten disease (CLN3), but the protein for which this gene codes has not been identified. In addition, research scientists are working with NCL animal models to improve understanding and treatment of these disorders. One research team, for example, is testing the usefulness of bone marrow transplantation in a sheep model, while other investigators are working to develop mouse models. Mouse models will make it easier for scientists to study the genetics of these diseases.
Organizations which is study on Batten Disease:
Batten Disease Support and Research Association
166 Humphries Drive
Suite 2
Reynoldsburg, OH 43068
bdsra1@bdsra.org
http://www.bdsra.org
Tel: 800-448-4570 740-927-4298
Fax: 740-927-4298 |
Children's Brain Disease Foundation [A Batten Disease Resource]
Parnassus Heights Medical Building, Suite 900
Suite 900
San Francisco, CA 94117
jrider6022@aol.com
Tel: 415-665-3003
Fax: 415-665-3003 |
Nathan's Battle Foundation [For Batten Disease Research]
459 South State Road 135
Greenwood, IN 46142
pmilto@indy.net
http://www.nathansbattle.com
Tel: 317-888-7396
Fax: 317-888-0504 |
Hide and Seek Foundation [for Lysosomal Storage Disease Research]
4123 Lankershim Boulevard
No. Hollywood, CA 91602-2828
info@hideandseek.org
http://www.hideandseek.org
Tel: 818-762-8621
Fax: 818-762-2502 |
|
