Krabbe Disease

Krabbe DiseaseBri Alston 2-22-13Honors Psychology

Common and Scientific NameKrabbe Disease

Globoid Cell leukodystrophy

TransmissionGenetic

-Mutation of chromosome 14-Lack the enzyme GALC-Without GALC, large globoid cells are formed

-Leads to lack of myelin producing cells

-Leads to lack of myelin-Developmental skills aren’t

formed

If there’s two parent carriers they have a:

- 25% chance of having Krabbe disease

- 50% chance to be a carrier

Target PopulationOccurs everywhere, but one in every six people in a Druze community in northern Israel and two Moslem Arab villages near Jerusalem are carriers.

Affect on CNS and PNS-Affects both the CNS

and PNS -Breaks down myelin

coating and degenerates all brain cells

Symptoms- Unexplained

Fever- Irritability - Limb Stiffness- Seizures- Feeding

difficulties- Vomiting

- Weakness- Loss of motor

skills- Vision/Hearing

loss- Diminished

mental abilities

Prognosis- Fatal before age 2 in

infants- Fatal within a few years

for children- Fatal within 2 – 7 years for

adults

Cure

There is no cure, however bone marrow and umbilical cord blood stem cell transplants have been found to slow the disease progression

CelebritiesHunter’s Hope Celebrity Classic is an event held since 1997 to support Jim Kelly’s son Hunter, with Krabbe disease. Dan Marino and Julius Erving attended.

OrganizationsThe National Institute of Neurological Disorders and Stroke (NINDS) and the National Institutes of Health (NIH) are researching for a cure and send support through grants to institutions across America.

SourcesNINDS Krabbe disease information page.

(2011). In Pamphlet by: National Institute of Neurological Disorders and Stroke. National Institute of Neurological Disorders and Stroke.

Stanley, A. (2005). Krabbe Disease. In B. Narins (Ed.), The Gale Encyclopedia of Genetic Disorders (2nd ed., Vol. 1, pp. 722-724). Detroit: Gale.