Kufs Disease

Kufs Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Kufs Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Adult-Onset Ceroidosis
  • Amaurotic Familial Idiocy, Adult
  • Ceroid-Lipofuscinosis, Adult form
  • Generalized Lipofuscinosis
  • Neuronal Ceroid Lipofuscinosis, Adult Type

Disorder Subdivisions

  • None

General Discussion

Kufs Disease is characterized by neurologic symptoms that may mimic mental illness, movement malfunction, and problems with sight. Kufs Disease is linked to excess accumulations of pigments (lipofuscins) dissolved in fat tissues that are found throughout the central nervous system. Kufs Disease, Batten Disease, Bielchowsky Disease, and Santavuori-Haltia Disease are different forms of the same family of disorders (neuronal ceroid lipofuscinoses [NCL]) that are differentiated by the age of onset. The various forms of this disorder are often 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.



People with Kufs Disease may present with a skin disorder involving dryness, roughness and/or scaliness (ichthyosis vulgaris). This condition arises as a result of excess production and/or retention of keratin (a principal component of skin). (For more information, choose "Ichthyosis" as your search term in the Rare Disease Database).

Causes

Kufs Disease is an inherited disorder that may involve either recessive (Kufs Disease) or dominant forms (Parry Disease). The recessive form (Kufs Disease) tends to be more serious than the dominant form.



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome 11p13" refers to band 13 on the short arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



Genetic diseases are determined by the combination of genes for a particular trait which are on the chromosomes received from the father and the mother.



Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.



Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.



All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Affected Populations

Kufs Disease usually becomes apparent after the age of twenty, whereas Batten Disease begins during early childhood and Jansky-Bielschowsky Disease begins during late childhood. There is an infantile form as well (Santavuori-Haltia Disease). All of these related lipid storage disorders are rare, occurring in an estimated 2-4 cases per 100,000 live births in the United States. The disorder appears to affect persons in Northern Europe (Finland, Sweden) more frequently than in other regions.

Standard Therapies

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.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Dyken PR. Kuf Disease. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:547.



Adams RD, Victor M, Ropper AA. Eds. Principles of Neurology. 6th ed. McGraw-Hill Companies. New York, NY; 1997:957-58, 967.



Menkes JH, Pine Jr JW, et al. Eds. Textbook of Child Neurology. 5th ed. Williams & Wilkins. Baltimore, MD; 1995:111-16.



REVIEW ARTICLES

Weimer JM, Kriscenski-Perry E, Elshatory Y, et al. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. Neuromolecular Med. 2002;1:111-24.



Sondhi D, Hackett NR, Apblett RL, et al. Feasibility of gene therapy for late neuronal ceroid lipofuscinosis. Arch Neurol. 2001;58:1793-98.



Santavuori P, Vanhanen SL, Autti T. Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders. Eur J Paediatr Neurol. 2001;5 Suppl A:157-61.



Zhong N. Molecular genetic testing for neuronal ceroid lipofuscinoses. Adv Genet. 2001;45:141-58.



Zhong N, Wisniewski KE. Outlook for future treatment. Adv Genet. 2001;45:217-24.



Wisniewski KE, Kida E, Golabek AA, et al. Neuronal ceroid lipofuscinoses: classification and disgnosis. Adv Genet. 2001;45:1-34.



Gardiner RM. The molecular genetic basis of the neuronal ceroid lipofuscinoses. Neurol Sci. 2000;21(3 suppl):S15-19.



FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 204300: Last Edit Date; 6/14/2001.



McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 162350: Last Edit Date; 10/29/1999.



Batten Disease Support & Research Association (BDSRA). Batten Disease Facts and Figures. Last Revised: 1/31/03. 7pp.

www.bdsra.org/batten.htm



Amersham Health. Neuronal ceroid lipofuscinosis. nd. 1p.

www.amerhamhealth.com/medcyclopedia



Lupofuscinosis Information. Review date: 12/3/2001. 11pp.

www.1uphealth.com/health/lipofuscinosis.html

Resources

National Tay-Sachs and Allied Diseases Association, Inc.

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204

Brookline, MA 02146-4227

USA

Tel: (617)277-4463

Fax: (617)277-0134

Tel: (800)906-8723

Email: info@ntsad.org

Internet: http://www.NTSAD.org



The Arc

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Fax: (202)534-3731

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TDD: (817)277-0553

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Internet: http://www.thearc.org



Children's Brain Diseases Foundation

350 Parnassus Avenue

Suite 900

San Francisco, CA 94117

USA

Tel: (415)665-3003

Fax: (415)665-3003

Email: jrider6022@aol.com



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466

Long Beach, CA 90803

Tel: (877)621-1122

Fax: (866)215-8850

Email: info@hideandseek.org

Internet: http://www.hideandseek.org



NCL Resource

c/o Sara E Mole PhD

MRC Laboratory for Molecular Cell Biology

University College London

Gower Street

London, WC1E 6BT

United Kingdom

Tel: 442076797257

Email: ncl-www@ucl.ac.uk

Internet: http://www.ucl.ac.uk/ncl



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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