Canavan Disease 2011

Summary

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 extremely rare in the general population, studies have shown Canavan's Disease to occur among eastern European Ashkenazi jews at a rate of one carrier in every 57 individuals. It is inherited in a Mendelian autosomal recessive fashion, resulting in a risk of 25% for a child of two 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 about 18 months. In rare cases life expectancy can be as high as 33 years, although in this particular case the patient had degraded into a 'persistent vegetative state' at that age.

Symptoms are mainly neurologically in nature, with the most commonly observed ones being:

• Mental retardation
• Degradation of motor skills (especially head control)
• Abnormal muscle tone (muscles are either constantly too tense or too relaxed)
• Megalocephaly (abnormally enlarged head)

More rarley observed symptoms are:

• Seizures
• Blindness
• Paralysis

The neurodegeneration chiefly affects the cerebral white matter, which is made up by the axons connecting individual neurons. The disease attacks these by an as-of-yet not fully understood process.

Treatment

There currently no cure for Canavan's Disease. Current treatment options are purley supportive and concentrate only on the symptoms.

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:

Sphingolipid Metabolism (source: KEGG) highlighting disease associated enzymes

(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.

• Create a page for the reference sequence.

Neutral mutations

• Create one page per mutated sequence.

Disease causing mutations

• Create one page per mutated sequence.