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$Unique_ID{BRK03517}
$Pretitle{}
$Title{Batten Disease}
$Subject{Batten Disease Amaurotic Familial Idiocy Juvenile type Neuronal
Ceroid Lipofuscinosis Spielmeyer-Vogt Disease Batten-Mayou Syndrome Stengel's
Syndrome Batten-Spielmeyer-Vogt's Disease Spielmeyer-Vogt-Batten Syndrome
Batten-Vogt Syndrome Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease
Santavouri Disease Jansky-Bielchowsky Disease Kuf Disease Tay Sachs Disease
Wallace}
$Volume{}
$Log{}

Copyright (C) 1986, 1987, 1988, 1990 National Organization for Rare
Disorders, Inc.

259:
Batten Disease


** IMPORTANT **
It is possible the main title of the article (Batten Disease) is not the
name you expected.  Please check the SYNONYMS listing to find the alternate
names, disorder subdivisions, and related disorders covered by this article.

Synonyms

     Amaurotic Familial Idiocy, Juvenile type
     Neuronal Ceroid Lipofuscinosis
     Spielmeyer-Vogt Disease
     Batten-Mayou Syndrome
     Stengel's Syndrome
     Batten-Spielmeyer-Vogt's Disease
     Spielmeyer-Vogt-Batten Syndrome
     Batten-Vogt Syndrome
     Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease

Information on the following disorders can be found in the Related
Disorders section of this report:

     Santavouri Disease
     Jansky-Bielchowsky Disease
     Kuf Disease
     Tay Sachs Disease

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Batten Disease is the juvenile form of a group of progressive
neurological diseases known as Neuronal Lipofuscinoses (NCL).  It is
characterized by accumulation of a fatty substance (lipopigment) in the brain
as well as in tissue that does not contain nerve cells.  This lipopigment
storage disorder is inherited, and is marked by rapidly progressive vision
failure (optic atrophy), and neurological disturbances, which may begin
before eight years of age.  Occurring mostly in white families of Northern
European Scandinavian ancestry, the disorder affects the brain and may cause
both deterioration of intellect and neurological symptoms.

Symptoms

In Batten Disease, an initial rapid deterioration of vision may occur.  A
slower but progressive deterioration of intellect may then follow.  Seizures
and psychotic behavior can develop later.  Backward and lateral curvature of
the spinal column (Kyphoscoliosis) may develop.  Pigmentary degeneration of
the eye is noted with ophthalmic evaluation.  Diagnosis is usually confirmed
by the demonstration of nerve cells heavily laden with lipid.

Additional symptoms may include twitching, seizures, psychotic behavior
(such as explosive, unprovoked laughing and/or crying), spasticity of legs
and/or arms, and cerebellar involvement affecting walking coordination
(ataxia).  Different combinations of symptoms may represent overlapping
categories of this disease.

Poor circulation producing periodic coldness in legs and feet as well as
a bluish-red color, decreases body fat, and muscle mass, hyperventilation
and/or breath-holding spells, teeth grinding and constipation have also been
noted among Batten patients.

Causes

Batten Disease is transmitted as a hereditary recessive trait.  (Human traits
including the classic genetic diseases, are the product of the interaction of
two genes for that condition, one received from the father and one from the
mother.  In recessive disorders, the condition does not appear unless a
person inherits the same defective gene from each parent.  If one receives
one normal gene and one gene for the disease, the person will be a carrier
for the disease, but usually will show no symptoms.  The risk of transmitting
the disease to the children of a couple, both of whom are carriers for a
recessive disorder, is twenty-five percent.  Fifty percent of their children
will be carriers, but healthy as described above.  Twenty-five percent of
their children will receive both normal genes, one from each parent and will
be genetically normal.)

Researchers suspect that Batten Disease is caused by missing enzymes,
resulting in the body's inability to break down substances such as fats, and
their associated sugars and proteins in the normal way.  Some of these fats,
sugars, and proteins then appear to form the lipopigments that accumulate in
nerves as well as other tissues causing symptoms of this disorder.

Affected Population

In the United States, Batten Disease along with the other forms of Neuronal
Ceroid Lipofuscinoses, occurs in approximately three in 100,000 births.  It
occurs in families of Northern European Scandinavian ancestry; in particular,
those of Swedish heritage.  It usually begins between five and seven years of
age.  Batten's disease occurs in about three children per live births in the
United States.

Related Disorders

Santavuori Disease is the early infantile form of Neuronal Ceroid
Lipofuscinosis.  Symptoms of all types of these disorders are similar, and
they are mainly differentiated by ages of onset.

Jansky-Bielchowsky Disease is the late infantile form of Neuronal Ceroid
Lipofuscinosis, and usually begins before four years of age.

Kuf Disease (also known as Parry Disease) is the adult-onset form of
Neuronal Ceroid lipofuscinosis, usually beginning before forty years of age.
(For more information on this disorder, choose "Kuf" as your search term in
the Rare Disease Database).

There are many lipid storage disorders that are related to Batten Disease.

Tay-Sachs Disease is a ganglioside lipidosis which is similar in tissue
analysis (histology) to Batten Disease.  It is a genetic disorder in children
that causes the progressive destruction of the central nervous system.  If is
generally found among children of East European Jewish heritage and becomes
clinically apparent at about six months of age.  (For more information,
choose "Tay-Sachs" as your search term in the Rare Disease Database.)

For more information about other Lipid Storage diseases, choose "Lipid"
as your search term on the Rare Disease Database.

Therapies:  Standard

At present, the diagnosis of Batten Disease and other forms of Neuronal
Ceroid Lipofuscinosis requires a variety of tests including blood tests and
skin or conjunctival punch biopsy for biochemical and ultrastructural
studies.  Electrophysical studies such as electroencephalogram (EEG) which
measures brain waves, and tests of the eyes including the electroretinogram
(ERG) and visual evoked response (VER) may be recommended.  Neuroradiological
studies including magnetic resonance imaging (MRI) and computer transaxial
tomography (CIT scan) of the head may also help confirm a diagnosis.
Finally, biochemical studies to detect the presence of urinary dolichol, a
complex molecule present in elevated levels among patients with Batten
Disease, is useful for diagnosis of this disorder.

Treatment for Batten Disease is usually symptomatic and supportive.
Services which benefit vision-impaired people may be of benefit, as well as
continuing ophthalmic evaluation.  Genetic counseling could be of value in
families affected by this disorder.

Therapies:  Investigational

In 1987, researchers studying Batten Disease and other forms of Neuronal
Ceroid Lipofuscinosis began conducting clinical, pathological, biochemical
and genetic studies aimed at improving diagnostic methods, identifying the
defective gene responsible for these disorders, and developing methods of
preventing and treating them.  For additional information, please contact the
agencies listed in the Resources section of this report.

The National Institute of Neurological & Communicative Disorders and
Stroke (NINCDS) and the National Institute of Mental Health (NIMH) support
two national human brain specimen banks.  These banks supply scientific
investigator with tissue from deceased patients with neurological and
psychiatric diseases.  Both brain banks need tissue from Batten's Disease
patients to enable scientists to study this disorder more intensely.
Prospective donors are asked to contact:

     Dr. Wallace W. Tourtellotte, Director
     Human Neurospecimen Bank
     VA Wadsworth Medical Center
     Wilshire and Sawtelle Boulevards
     Los Angeles, CA  90073
     [phone]

     Dr. Edward D. Bird, Director
     Brain Tissue Bank, Mailman Research Center
     McLean Hospital
     115 Mill St.
     Belmont, MA  02178
     [phone]

This disease entry is based upon medical information available through
January 1990.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Batten Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Batten Disease Support & Research Association
     2600 Parsons Ave.
     Columbus, OH  43207

     NYS Institute for Basic Research in Developmental Disabilities
     1050 Forest Hill Road
     Staten Island, NY  10314
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     National Tay-Sachs and Allied Diseases Association, Inc.
     2001 Beacon St, Rm. 304
     Brookline, MA  02164
     [phone] or 277-3965

     Children's Brain Disease Foundation for Research
     350 Parnassus  Suite 900
     San Francisco, CA  94117
     [phone]
     [phone]

     Research Trust for Metabolic Diseases in Children
     Golden Gates Lodge, Weston Rd.
     Crewe CW1 1XN, England
     Telephone:  [phone]

For genetic information and genetic counseling referrals, please contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 6th ed:  Victor A. McKusick; Johns Hopkins
University Press, 1983.  P. 596.