Wilson's disease is a rare genetic disorder of copper metabolism; specifically, excess copper accumulates in the liver and can lead to death if not treated, According to Aftab Ala and colleagues in February 2007 in "The Lancet." Brain imaging techniques help scientists understand the nature and course of the disorder which may be useful for diagnosis and prognosis, according to S. Sinha and colleagues June 2006 in "Neuroradiology."
History
Wilsons's disease is found in between 1 in 30,000 and 1 in 100,000 people, as mentioned by Ala and colleagues. The researchers also note that the symptoms of this disease were first described by a man named Kinnier Wilson in 1912.
Onset
The symptoms of Wilson's disease typically first occur in people when they are in their 20s and 30s, according to Ala and colleagues. They also note that Wilson's disease gets progressively worse over time.
Findings
A study conducted by Sinha and colleagues found abnormal brain MRIs in 76 percent of the patients examined. These findings confirm abnormalities in almost every area of the brain of people with Wilson's disease. Specifically, they found abnormalities in the superior frontal, parietal and occipital lobes of the brain. According to Bryan Kolb and Ian Whishaw in "Fundamentals of Human Neuropsychology," the frontal lobes regulate behavior in relation to time and space; the parietal lobes are involved with the creation of mental representations of space; and the occipital lobes are involved with the processing of visual information.
Considerations
Copper is an essential nutrient of the human diet and necessary for the function of proteins. Yet, with Wilson's disease, in addition to the liver, excessive copper accumulations are also found in the tissue of neurons, the blood and muscle cells, according to Philipp Lang and colleagues in 2007 in "Nature Medicine." Lang and colleagues explain that this can lead to anemia, cirrhosis, hepatitis and even liver failure, and patients with Wilson's disease are also prone to psychiatric disorders.
Treatments
Treatments involve the administration of zinc to counter the effects of the excess copper, coppers chelators that help the body eliminate the copper from the system, or both, as mentioned by Ala and colleagues. Scientists are discovering natural pathways in the body that regulate copper according, to Lang and colleagues. These researchers mention that such knowledge can lead to treatments that work together with the possible copper-regulating mechanism of the body as a means of treatment for Wilson's disease.
References
- The Lancet: Wilson's Disease
- "Fundamentals of Human Neuropsychology;" Bryan Kolb, & Ian Q. Whishaw; 2003
- Neuroradiology: Wilson's Disease: Cranial MRI Observations and Clinical Correlation
- Nature Medicine: Liver Cell Death and Anemia in Wilson Disease Involve Acid Sphingomyelinase and Ceramide
