TREATMENTS &
RESEARCH
latest
treatment
information
here.
Dr. Huntley's
Diagnosis
Checklist
See what questions
a doctor would ask.
NINDS Batten Disease Information Page: NINDS
Article title: NINDS Batten Disease Information Page: NINDS
Conditions: Batten Disease
What 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.
Batten Disease Support and Research Association
120 Humphries
Drive
Suite 2
Reynoldsburg, OH 43068
bdsra1@bdsra.org
http://www.bdsra.org/
Tel:
800-448-4570
Fax: 614-445-4191
Children's Brain Disease Foundation [A Batten Disease
Resource]
Parnassus Heights Medical Building, Suite 900
350
Parnassus Avenue
San Francisco, CA 94117
Tel: 415-565-6259
Fax: 415-863-3452
Institute for Basic Research [Batten Disease Resource]
1050
Forest Hill Road
Staten Island, NY 10314
Tel: 718-494-0600
Fax: 718-698-3803
JNCL Research Fund [For Batten Disease Research]
P.O. Box 766
Mundelein, IL 60060
Contactus@jnclresearch.org
http://www.jnclresearch.org/
Nathan's Battle Foundation [For Batten Disease Research]
459
South State Road 135
Greenwood, IN 46142
pmilto@indy.net
http://www.nathansbattle.com/
Related NINDS Publications and Information
Batten Disease Fact
Sheet (includes infantile, late infantile, juvenile, and adult
forms).
Summary
of a workshop, "Batten Disease: Basic Biology and Therapy", held April
1-2, 1999.
This fact sheet is in the public domain. You may copy it.Provided
by:
The National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD
20892
» Next page: NINDS Behcet's Disease Information Page: NINDS
Rate This Website
What do you think about the features of this website? Take our user survey and have your say:
Medical Tools & Articles:
Tools & Services:
Medical Articles:
Forums & Message Boards
Common Health Mistakes
mistakes, errors,
and misdiagnosis
of major diseases.
Symptom
Checker
or many
symptoms
Search Specialists by State and City
