Neuronal Ceroid Lipofuscinosis
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What is Batten Disease?Is there any treatment?What is the prognosis?What research is being done?OrganizationsPublicaciones en EspañolWhat is Batten Disease?
Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. 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.
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.
Select this link
to view a list of studies currently seeking patients.
Organizations
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
|
Publicaciones en Español
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Enfermedad de BattenInformación del enfermedad de Batten/Spanish-language fact sheet on Batten disease compiled by the National Institute of Neurological
Disorders and Stroke (NINDS).
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by
or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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Last updated February 12, 2007
