Presented by Louis Marais (Deputy Director ICTS, UFS) and Andrew Alston (Owner, Alston Networks)
Krabbe Disease Bri Alston 2-22-13 Honors Psychology.
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Transcript of Krabbe Disease Bri Alston 2-22-13 Honors Psychology.
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Krabbe DiseaseBri Alston 2-22-13Honors Psychology
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Common and Scientific Name
Krabbe Disease
Globoid Cell leukodystrophy
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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
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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.
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Affect on CNS and PNS
-Affects both the CNS and PNS
-Breaks down myelin
coating and degenerates all brain cells
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Symptoms
- Unexplained Fever
- Irritability - Limb Stiffness- Seizures- Feeding
difficulties- Vomiting
- Weakness- Loss of motor
skills- Vision/Hearing
loss- Diminished
mental abilities
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Prognosis- Fatal before age 2 in
infants- Fatal within a few years
for children- Fatal within 2 – 7 years for
adults
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Cure
There is no cure, however bone marrow and umbilical cord blood stem cell transplants have been found to slow the disease progression
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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.
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Organizations
The 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.
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Sources
NINDS 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.