Canavan Disease The causes of, detection of, symptoms of, and treatment of Canavan disease

Overview of Canavan Disease In my own words, Canavan disease is a progressive neurological disease grouped by increased head circumference; progressive loss of visual responsiveness; and decreasing muscle tone and motor activity which leads to death normally by the fourth birthday. In 1931, credit was given to Myrtelle Canavan for been the first to be able to provide description of this disease.

Overview of Canavan Disease (Cont) Canavan disease is often considered a synonym or a condition closely related to the following: Aminoacylase-2 Deficiency Aspartoacylase Deficiency Canavan-van Bogaert-bertrand Disease Spongy Degeneration of Cerebral White Matter Spongy Degeneration of the Central Nervous System Spongy Degeneration of the Neuroaxis Van Bogaert-bertrand Syndrome

Overview of Canavan Disease (Cont) In 1993, the discovery of the gene aspartoacyclase was credited to Dr. Reuben Matalon. Also know as Canavan gene. Not common and it is acquired genetically. The fact is that if both parents are carriers of this disease, then there is a 25% chance of one off spring or child being affected, 50% chance of two being carriers and 25% chance of one not affected. 1 in 40 Ashkenazi Jewish populations has the Canavan disease. 1 in 300 people carry a faulty copy of the Canavan gene.

Overview of Canavan Disease (Cont)

Detection of Canavan Disease Diagnoses are done using urine samples, blood samples or fetus to screen for excessive amounts NAA (“Jewish”). Linkage analysis. *Detection is possible during when a woman is less than 18 weeks pregnant. *Observation of Canavan gene activity.

Detection of Canavan Disease *In addition, the detection done by testing DNA of the fetus to that of affected and unaffected family members to establish whether the fetus is likely to be affected. *Recommendation: Perform a test before pregnancy.

symptoms of Canavan Disease The symptoms of Canavan disease begins in infancy and advance speedily. Poor head control. Increased in the circumference of head size. Weakness. Development of seizures. Regression in early developmental milestones. Mental retardation. Feeding difficulties. Abnormal muscle tone. Blindness or hearing loss may occur. Death usually occurs by age four.

Treatment of Canavan Disease There is no cure. This disease is similar to AIDS and other incurable diseases we have today. There is no standard course of treatment. Therapy is what affected children under go as a way of treatment. The application of medications could decrease the amount of NAA produced in an affected child’s central nervous system. The Medical college of Wisconsin also posted an article which states that the introduction of functional stem cells into an affected child’s brain will increase the number of neurons that produces Canavan gene which could serve as a form of treatment.

Treatment of Canavan Disease (cont) Another way is the gene therapy. This is when Canavan gene is introduced into an affected child’s central nervous system to increase the amount of Canavan gene which will break and reduce NAA in the brain. According to Thomas Jefferson University researchers, this allows entrance to the central nervous system’s ventricles and cerebrospinal fluid will allow potential treatment.

Works Cited Canavan Disease. MedicineNet Inc. Lasted modified on 20 June 2002. Retrieved on 30 July 2005. http://www.medicinenet.com/canavan_disease/article.htm Canavan’s Disease. NeuroLearn NeuroHelp Metabolic. Retrieved on 30 July 2005. http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF2IE01.htm#HP Genetic Screening. IDANT Laboratories. Last modified on 2003. 30 July 2005. http://www.idant.com/fertilityServices/geneticScreening.htm Jewish Genetics Disorders. Jewish United Fund/Jewish Federation of Metropolitan Chicago. Posted on 2003. Retrieved on 30 July 2005. http://www.juf.org/news_public_affairs/article.asp NINDS Canavan Disease Information Page. NINDS. Last modified on 09 February 2005. Retrieved on 30 July 30, 2005. http://www.ninds.nih.gov/disorders/canavan/canavan.htm PALMS. Canavan Disease. Last modified on 24 May 2005. Retrieved on 30 July 2005.http://www.palmslab.com.au/index.html Parker, James N. M.D. (Ed.) and Parker, Phillip M. PhD (Ed). The Official Parent’s Source Book on Canavan Disease. A Revised and Updated Directory for the Internet Age. ICON Group International, Inc. Retrieved on 26 July 2005. http://www.icongrouponline.com/health/Canavan_Disease.html

Works Cited (CONT) The Doctor’ Doctor. Canavan Disease. Posted on 6 December 2002. Retrieved on 26 July 2005. http://www.thedoctorsdoctor.com/diseases/canavan_disease.htm The Facts about Canavan Disease. Health Link. Medical College of Wisconsin. Last modified on 03 December 2003. Retrieved on 31 July 2005. http://healthlink.mcw.edu/article/921391101.html The Myelin Project Headquarters. Glossary. Posted on 2002. Retrieved on 26 July 2005. http://www.myelin.org/glossary.htm. Thomas Jefferson University. Jefferson Researchers Use Gene Therapy to Treat Rare, Inherited Brain Disease. Posted on 24 March 1998. Retrieved on 30 July 2005. http://www.sciencedaily.com/releases/1998/03/980324074738.htm Toward an Understanding of Benefit Sharing. Center for Bioethics University of Pennsylvania. Retrieved on 30 July 2005. http://www.bioethics.upenn.edu/prog/benefit/a1.shtml Wikipedia. The Free Encyclopedia. Canavan Disease. Last Modified on 13 June 2005. Retrieved on 26 July 2005. http://en.wikipedia.org/wiki/Canavan_disease