Krabbe disease is a degenerative disorder that affects both the central nervous system and the peripheral nervous system (Xiujuan, et al., 2013). Krabbe disease is caused by mutations in the galactocerebrosidase beta-galactosidase gene and also the psychosine gene encoding the GALC enzyme (Malandrini, et al., 2013). This disease is a type of leukodystrophy, which result from the loss of myelin. This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus (Xiujuan, et al., 2013). In the US, Krabbe’s disease affects about 1 in every 100,000 people.
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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Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Jose Americo, F. F., & Shapiro, B. E. (2004). Tay-sachs disease. Archives of Neurology, 61(9), 1466-1468.
Korsakoff’s syndrome is a brain disorder that is related to heavy alcohol use over a long period of time. This disorder is caused by a lack of Thiamine, or vitamin B1. Excessive amounts of alcohol use lead to Thiamine deficiency, which affects the brain and nervous system. Thiamine deficiency can be caused by poor eating habits, as heavy drinkers typically do not have nutritional diets that fulfill their vitamin needs. Alcohol can also disrupt the process in which Thiamine is changed into the active form, Thiamine Pyrophosphate. Alcohol also inflames the stomach lining, causing vomiting; again, this affects the body’s absorption of key vitamins. The effect alcohol has on the liver also affects the storage of these vitamins. Korsakoff’s syndrome is also related to another brain disorder, Wernicke-Korsakoff syndrome. This syndrome involves the Korsakoff syndrome and also Wernicke. Wernicke’s syndrome involves undernutrition, jerky eye movements, poor balance, and memory loss, which is caused by heavy alcohol consumption. If this condition is...
pathophysiology of the disease starts when the myelin sheath of both the spinal and cranial
While the Type I Gaucher Disease is non-neuronopathic (not affecting the nervous system) the second two types are neuronopathic. Yet even though the three types of Gaucher produce different symptoms, all three types result from the same cause: a lack of glucocerebrosidase enzyme. The glucocerebrosidase enzyme functions to break down the compound glucocerebroside, a fatty compound which usually is stored in all cells of the body in very small amounts. In Gaucher patients, an excess of glucocerebroside builds up in the body, and is stored abnormally in lysosome, or storage cells (3) . Typically, macrophages are able to aid in the degradation process of glucocerebroside. However, due to the lack of glucocerebrosidase in Gaucher patients, glucocerebroside stays in the lysosome, preventing macrophages from acting upon them. Macrophages which are enlarged and contain an abnormal buildup of...
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(Marieb, 2016). Myelin is the protective coat surrounding and insulating the nerve fibers of CNS. Myelin is fatty tissue substance that if attacked by immune cells causing a short-circuits in the current so that the successive gaps are excited more and more slowly, and eventually impulse conduction ceases which resulted in various forms of symptoms (Marieb, 2016). The degradation could either be “by inflammation, stroke, immune disorder, metabolic disorders, or nutritional deficiencies” (Slomski, 2005). The target that immune cells are sensitized to attack remains
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1 in every 800 live births. It is often diagnosed in early infancy by the examination of specific
Guillain- Barre Syndrome (GBS) is a rare, but very fatal auto- immune disease that specifically focuses on attacking the myelin sheath that surrounds the peripheral nerves in the human body. There are many different severities of this disease, but without treatment it can not only affect the entire nervous system but eventually shut down the rest of the body.
Barker, V., Giles, H., Hajek, C., Ota, H., Noels, K., Lim, T-S., & Somera, L. (2008).