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$Title{Kufs Disease}
$Subject{Kufs Disease Amaurotic Familial Idiocy Adult Ceroid-Lipofuscinosis
Adult form Neuronal Ceroid Lipofuscinosis Batten Disease Gaucher Disease
Bielchowsky Disease Tay Sachs Disease Sandhoff Disease Niemann-Pick Disease }
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Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc.

349:
Kufs Disease

** IMPORTANT **
It is possible the main title of the article (Kufs 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, Adult
     Ceroid-Lipofuscinosis, Adult form
     Neuronal Ceroid Lipofuscinosis
     Adult-Onset Ceroidosis
     Generalized Lipofuscinosis

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

     Batten Disease
     Gaucher Disease
     Bielchowsky Disease
     Tay Sachs Disease
     Sandhoff Disease
     Niemann-Pick 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.


The chief characteristics of Kufs Disease are neurologic symptoms which
may mimic mental illness, and dermatologic abnormalities resembling
ichthyosis.  Symptoms of Kufs Disease may be linked to excess accumulations
of pigments (lipofuscins) dissolved in fat tissues that are found throughout
the central nervous system.  Kufs Disease, Batten Disease and Bielchowsky
Disease are different forms of the same disorder and are differentiated by
the age of onset (see Related Disorders section of this report).  Both major
forms of this disorder may be extremely difficult to differentiate from other
progressive degenerative diseases of the central nervous system.

Symptoms

Kufs Disease is a very rare disorder marked initially by progressive weakness
with diminished muscle coordination, seizures, rapid involuntary jerky
movements (chorea), and rarely blindness.  This disorder can be inherited as
either a dominant or recessive trait and is usually slowly progressive.

Neurological symptoms of Kufs Disease usually begin after the age of
twenty and can resemble mental illness.  Confusion, stupor or psychotic
behavior may mark the onset, leading to mental retardation and generalized
convulsions.  These symptoms are due to excess pigment in fat (lipofuscins)
that accumulate in the brains of people with Kufs Disease.

A generalized skin disorder called ichthyosis vulgaris occurs and is
marked by dryness, roughness and/or scaliness.  This condition is a result of
excess production or retention of keratin (a principal component of skin)
which occurs in people with Kufs Disease.  (For more information, choose
"Ichthyosis" as your search term in the Rare Disease Database).

Causes

Kufs Disease is an inherited disorder which involves excess accumulation of
pigments (lipofuscins) throughout the central nervous system.  The symptoms
of both dominant and recessive forms of this disorder involve impaired muscle
coordination (ataxia) with behavioral abnormalities.  The dominant form of
Kufs Disease tends to be less serious than the recessive form.

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 dominant disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the normal gene
and resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.)

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.

Affected Population

Kufs Disease is the adult form of Ceroid-Lipofuscinosis.  This condition
usually begins after the age of twenty, whereas Batten's Disease begins
during early childhood and Bielchowsky's Disease begins later during
childhood.  All of these three related lipid storage disorders are very rare,
perhaps affecting a few hundred people in the United States.

Related Disorders

There are many disorders caused by abnormal lipid metabolism.

Batten Disease is the juvenile form of Ceroid-Lipofuscinosis.  It is a
hereditary lipid storage disorder transmitted as a recessive trait.  Batten
Disease is characterized by rapidly progressive neurological degeneration and
vision failure (optic atrophy).  Symptoms usually begin between five and
seven years of age.  Batten Disease occurs mostly in white families of
Northern European Scandinavian ancestry.  (For more information, choose
"Batten" as your search term in the Rare Disease Database).

Gaucher's Disease is an inherited disease of lipid metabolism caused by
the failure to produce the enzyme glucocerebrosidase.  It is the most common
of the fourteen known lipid storage disorders which includes Tay-Sachs
Disease, Fabry's Disease, and Niemann-Pick Disease.  There are three types of
Gaucher's Disease - Type I, II and III.  All three are characterized by the
presence of Gaucher (lipid-laden) cells in the bone marrow and other organs
such as the spleen and liver.  (For more information, see below and choose
"Gaucher," "Tay Sach," "Fabry," and "Niemann" as your search terms in the
Rare Disease Database).

Bielchowsky Disease is a late infantile form of Ceroid-Lipofuscinosis
This disorder is due to an inborn error of lipid metabolism.  It is inherited
as a recessive trait, and is found in all racial groups.  Diagnosis of
Bielchowsky Disease is ascertained by the presence of ceroid-lipofuscin
pigments, and it is differentiated from Batten Disease and Kufs Disease by
the age of onset.

Tay-Sachs Disease is a genetic lipid storage disease that causes the
progressive destruction of the central nervous system.  It is most common
among children of Eastern European Jewish heritage and becomes clinically
apparent at about six months of age.

Sandhoff Disease, also known as Gangliosidosis GM2 Type 2, is an
inherited variant of Tay-Sachs Disease.  It has greater visceral involvement
than other forms of Lipofuscinosis and affects people of all heritages.  (For
more information on this disorder, choose " Sandhoff" as your search term in
the Rare Disease Database).

Niemann-Pick Disease is a rare, familial disorder of lipid metabolism
characterized by the accumulation of sphingomyelin and cholesterol in the
reticuloendothelial cells.  There are at least five different forms of this
type of lipidosis.

Therapies:  Standard

Treatment of Kufs Disease is symptomatic and supportive.  Genetic counseling
may be of benefit for families of affected patients.  Service agencies which
aid the mentally disabled could also be helpful to the patient and family.

Therapies:  Investigational

Research is ongoing into all lipid storage disorders.  Recent advances in the
treatment of Gaucher's Disease raises hope that other lipid storage disorders
may be treatable in the near future.  Scientific study of gene replacement
therapy in animal models raises the hope that gene replacement therapy may
someday be made available to people with these types of genetic disorders.

This disease entry is based upon medical information available through
February 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 Kufs Disease, please contact:

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

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

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

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

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1274 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

ADULT CEROID-LIPOFUSCINOSIS:  DIAGNOSTIC VALUE OF BIOPSIES AND OF
NEUROPHYSIOLOGICAL INVESTIGATIONS :  A. Vercruyssen, et. al.; J Neurol
Neurosurg Psychiatry  (November 1982, issue 45(11)).  Pp. 1056-1059.

FAMILIAL OCCURRENCE OF ADULT-TYPE NEURONAL CEROID LIPOFUSCINOSIS:  M.
Tobo, et. al.;  Arch Neurol (October 1984 issue 41(10)).  Pp. 1091-1094.

AUTOFLORESCENCE EMISSION SPECTRA OF NEURONAL LIPOPIGMENT IN A CASE OF
ADULT-ONSET CEROIDOSIS (KUFS' DISEASE):  J.H. Dowson, Acta Neuropathol
(Berl).  (1983, issue 59(4)).  Pp. 241-245.