Sunday, September 25, 2011

Krabbe Disease

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What is Krabbe Disease?

Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems.  It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells.  Krabbe disease is one of a group of genetic disorders called the leukodystrophies.  These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills.  Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes.  Each of the leukodystrophies affects one (and only one) of these substances.  Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism.  The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.  Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development.  Other symptoms include muscle weakness, spasticity, deafness, and blindness.

Is there any treatment?

There is no cure for Krabbe disease. Results of a very small clinical trial of patients with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment.  Results also showed that disease progression stabilized faster in patients who receive cord blood compared to those who receive adult bone marrow.  Bone marrow transplantation has been shown to benefit mild cases early in the course of the disease.  Generally, treatment for the disorder is symptomatic and supportive.  Physical therapy may help maintain or increase muscle tone and circulation.

What is the prognosis?

Infantile Krabbe disease is generally fatal before age 2.  Prognosis may be significantly better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation.  Persons with juvenile- or adult-onset cases of Krabbe disease generally have a milder course of the disease and live significantly longer.

What research is being done?

The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research on the lipid storage diseases in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.

NIH Patient Recruitment for Krabbe Disease Clinical Trials


United Leukodystrophy Foundation
2304 Highland Drive
Sycamore, IL   60178
Tel: 815-895-3211 800-728-5483
Fax: 815-895-2432

Hunter's Hope Foundation [A Leukodystrophy Resource]
P.O. Box 643
Orchard Park, NY   14127
Tel: 716-667-1200 877-984-HOPE (-4673)
Fax: 716-667-1212

National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT   06813-1968
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

Myelin Project
P.O. Box 39
Pacific Palisades, CA   90272
Tel: 800-869-3546 310-459-1071
Fax: 310-230-4298

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.

Last updated June 13, 2011

Synonym(s):   Globoid Cell Leukodystrophy

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