When trying to diagnose Krabbe’s disease, there are typically three main characteristics that you could see in an individual. One characteristic is penetration in the brain of multinucleated macrophages that contain globoid cells (Suzuki, 2003). Another characteristic is the rapid and almost complete disappearance of oligodendrocytes, which are used to provide support and protection for neurons in the brain (Suzuki, 2003). The third characteristic is lack of fluid around the spinal cord and brain (Suzuki, 2003). People who have this disorder will experience deterioration in the functioning of their nerves and will ultimately lose the ability to maintain functions of all their major organs.
Krabbe’s disorder can be seen in infants, juveniles and adults. Having said this it is most commonly seen in infants around the ages of 3-6 months (Xiujuan, et al., 2013). If Krabbes is seen in infants death could be seen within two years of age (Suzuki, 2003). The younger the child is when being diagnosed the faster the disease progression is. One type of neuropathy seen in Krabbe’s disease is demyelinating per...
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...netics. 53(6): 1250-1255
Sahai, I., Baris, H., Kimonis, V., & Levy, H. L. (2005). Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis. Journal Of Child Neurology, 20(10), 826-828.
Suzuki, K. (2003). Globoid Cell Leukodystrophy (Krabbe's Disease): Update. Journal Of Child Neurology, 18(9), 595-603.
Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1238/
Xiujuan, Z., Semon, J. A., Shijia, Z., Strong, A. L., Scruggs, B. A., Gimble, J. M., & Bunnell, B. A. (2013). Characterization of adipose-derived stromal/stem cells from the twitcher mouse model of krabbe disease. BMC Cell Biology, 14(1), 1-11. doi:10.1186/1471-2121- 14-20.
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