Zellweger Syndrome
Zellweger syndrome is one of four related diseases grouped under:” peroxisome biogenesis disorders” (PBD), and is the most severe form in the spectrum. These disorders are inherited conditions that damage the white matter in an affected person’s brain, and affect the metabolism of certain substances present in blood and organ tissues. Zellweger disorder is characterized by the failure of the body to produce properly functioning organelles called peroxisomes.
Peroxisomes are small cytoplasmic organelles that play an important role in organ development. They are small vesicles with a single membrane containing oxidative enzymes responsible for digesting toxic materials in the cell. A normally functioning peroxisome, breaks down toxic substances and provides normal functioning of the cell by synthesizing lipids. Hydrogen peroxide is a byproduct of the digestive activity that takes place inside a peroxisome. The organelle has the ability to break the byproduct down into water and oxygen which can then be reused inside the cell. Healthy functioning peroxisomes are essential for normal eye, liver, kidney, and bone functions. They also affect brain development and function, as well as the formation of the myelin sheath, a whitish substance that coats nerve fibers and allows efficient transmission of impulses along nerve cells.
Mutations in one of a number of genes termed PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19 and PEX26 can lead to a dysfunctional organelle which causes the abnormalities observed in Zellweger syndrome. The 12 genes encode for proteins called peroxins, responsible for a proper development of peroxisomes. The gene defect will either cause a reduction or a complete ab...
... middle of paper ...
...: 3/9/2014
National Foundation of Rare Disorders. Zellweger Spectrum Disorders. Steinberg Steven J., PhD 15/09/08 http://www.rarediseases.org/rare-disease-information/rare-diseases/viewSearchResults?term=Zellweger%20Syndrome accessed on: 3/9/2014
National Institute of Neurological Disorders and Stroke. NINDS Zellweger Syndrome Information Page. 22/10/12
http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm accessed on: 3/9/2014
Van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJ. Waterham HR, Ferdinandusse S. “MRI as diagnostic tool in early-onset peroxisomal disorders” Neurology April 24, 2012 vol. 78 no. 17 1304-1308
Weiss, Thomas C. Zellweger Syndrome - Facts and Information. 3/13/2010
http://www.disabled-world.com/disability/types/zellweger-syndrome.php accessed on :
3/9/2014
Currently Dr. Correia is a Neuropsychologist at the Providence Veterans Affairs Medical Center. At Brown University, he is the Neuropsychology Intern Track Coordinator, the Director of the Neuropsychology Grant Writing Seminar and works in the MRI research Facility. He is the Assistant Director at the Neuroimaging Center at Butler Hospital and is also in the Imaging Core Executive Committee there.
MOD. "Tay-Sachs and Sandhoff diseases." Birth Defects. March of Dimes, Dec. 2009. Web. 12 Feb. 2014. .
(Calendar 2013) Waardenburg Syndrome is a rare genetic disorder meaning that is caused by a mutation of genes. The disorder is classified as type I, II, III, or IV based on inheritance pattern and symptoms (Genetics 2013). Waardenburg Syndrome is an incurable disorder that is inherited from either one or both parents. If it came from one parent, it is an autosomal dominant pattern and if it came from both, it is known as an autosomal recessive pattern (Calendar 2013).
Research Updates. University of Rochester Medical Center. November 10, 2008. National Institutes of Health. February 6, 2009. < http://www.urmc.rochester.edu/neurology/nih-registry/research/index.cfm>.
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
How many of us wished to have super powers as kids ? I don't mean being strong as hulk, being bitten by a spider to be able to climb buildings like spider man, or be able to fly like birds around the city in the blue sky's. It is known that the human brain can not focus on a single task more than 10%. But there have been some individuals that are capable of this ability. Daniel Tammet have learned one of the most strenuous languages on earth fluently in just 7 days from his interview or Stephen Wiltshire which was capable of drawing the New York city and Rome just by having an one time tour with the helicopter and flying around the city he was able to draw the whole city and mentioning all the details without captivating any pictures or writing any notes. Amazing right? Sadly these talents have their own cost. Most of these indivisible suffer in their daily lives not being able to communicate with others within verbal communication or emotionally, most of them can't even function in their daily lives by their own, dress by them self or even eat a simple lunch not even talking about preparing the food leaving them to intended to live their lives isolated from the society. This rare syndrome i'm talking about is recognized as the savant syndrome. it's an unique condition letting the persons have an intelligence above normal in some ares in life such as musical, mechanical, artistic and mathematical, in exchange of limiting this person emotionally. Savant syndrome touches several people in the world. It can occur after birth or later in any stage of life. It affects both males and females but occurs mostly in males. Many scientists have come with different explanations for the savant syndrome. First it was discovered in 1987 by J.London Down. Also, he was the one that devised and related the disorder with the skill to mention an amazing memory. A study published by Bernard Rimland have states that "the savant skills most often present in autistic people are those associated with right hemisphere functions and the most deficient abilities are associated with left hemisphere functions (Treffer, 2002). This supports prove that the left brain hemisphere model to be correct.
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Rowland, L. P., ed. Merritt’s Textbook of Neurology. 7th ed. Lea and Febiger. Philadelphia: 1984.
The two developmental neurologic disorders I would like to discuss are Sickle-cell anemia and Down syndrome. Sickle- cell anemia was named for the description of the appearance of the red blood cells of those who suffer from the disease. Johnson (2010) describes sickle as a chronic illness resulting from inadequate blood circulation that causes significant pain and ultimately organ failure and death (p. 132.) According to Feldman (2013) “around 1/10th of people of African descent carry genes that produce sickle-cell anemia, and 1/400 actually has the disease.” Symptoms of the disease include chest and abdominal pain, fever, fatigue, jaundice related to hepatic disease, compromised renal function, stroke and sometimes death. In the past many victims of the disease died in infancy, but due to advances in medicine, life expediency has significantly increased. One of the most difficult consequences of this disease is the lifelong management of pain and resulting isolation during times of a sickle-cell crisis. Cognitive, physical and social development are al...
Other problems with using these noninvasive imaging methods of only few changes of variables in the brain’s activity are that maybe the problem does not reside in the blood, oxygen intake, or glucose utilization. It may be in other factors that we do not observe that is causing the trouble. By being limited to these estimations of brain activity does not really make our effort of correcting the problem that successful.
There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females.
National Institute of Neurological Disorders and Stroke (2011). National Institutes of Health. Retrieved [18th April 2011] from http://www.ninds.nih.gov/disorders/picks/picks.htm.
Sullivan, S. J., Hammond-Tooke, G. D., Schneiders, A. G., Gray, A. R., & McCrory, P. (2012). The diagnostic accuracy of selected neurological tests. Journal of Clinical Neuroscience, 19. 423-427. doi:10.1016/j.jocn.2011.09.011