Canavan Disease 2011
Contents
Summary
The example disease causes the example syndrome. Canavan's Disease is an inherited neurodegenerative disease. It was first generalized by | Dr. Myrtelle Canavan in 1931 on the case of an infant deceased at the age of 16 months. While it is vertuelly not existent in the general population, Canavan's Disease occurs in the eastern Europe among Ashkenazi jews at a rate of one carrier in every 40 individuals. It is inherited in a Mendelian autosomal recessive fashion, resulting in a risk of 25% for a child of to carriers to be affected by the disease.
Phenotype
Symptoms usually appear in early infancy and progress rapidly, and with basic supportive care average life expectancy is at 18 months. In rare cases life expectancy can be as high as 33 years, although in this particular case patient was in the fully vegetative state at the last few year of her life.
Symptoms are mainly neurologically in nature, with the most commonly observed ones being:
- mental retardation
- degradation of motor skills
- abnormal muscle tone
- megalocephaly
More rarley observed symptoms are:
- seizures
- blindness
- paralysis
Treatment
There currently no cure for Canavan's Disease.Current treatment options are purley supportive and concentrate only on the symptoms.
Phenotypic description of the disease.
(Describe this in your own words, avoid plagiarism. Summarize the information from different sources.)
Cross-references
See also description of this disease in
- specific link to Wikipedia
- specific link to HGMD
- specific link to OMIM
... (see databases in "resources")
Biochemical disease mechanism
The example protein is involved in the example pathway...
Ideally, include a graphical pathway representation like this one:
(see above: own words, no plagiarism)
Cross-references
- link to KEGG
- link to MetaCyc
... see databases in "resources"
Mutations
Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations. -- These sequence pages will be the starting point for collecting prediction results and result discussions.
Note: Currently (13.5.) you only need to care about the reference sequence pages. -- At a later stage we will assign mutations we expect you to work on. Then, it will make sense to create on page per mutation that is assigned to you.
Reference sequence
Which sequence does not cause the disease and is most often found in the population.
