Difference between revisions of "Canavan Disease 2011"
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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 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. |
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| − | Symptoms are mainly neurologically in nature, with the most commonly observed ones being: |
+ | Symptoms are mainly neurologically in nature, with the most commonly observed ones being: |
| + | |||
* Mental retardation |
* Mental retardation |
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* Degradation of motor skills (especially head control) |
* Degradation of motor skills (especially head control) |
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* Abnormal muscle tone (muscles are either constantly too tense or too relaxed) |
* Abnormal muscle tone (muscles are either constantly too tense or too relaxed) |
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| − | * Megalocephaly (abnormally enlarged head) |
+ | * Megalocephaly (abnormally enlarged head) |
| + | |||
| + | More rareley observed symptoms are: |
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| − | More rarley observed symptoms are: |
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* Seizures |
* Seizures |
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* Blindness |
* Blindness |
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| − | * Paralysis |
+ | * 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 |
+ | The neurodegeneration chiefly affects the cerebral white matter, which is made up by the axons connecting individual neurons. The disease attacks these axons by an as-of-yet unknown mechanism, although the compound [[http://en.wikipedia.org/wiki/N-Acetylaspartate|N-Acetate aspartate]] appears to play a role in this process. |
| − | [[Image:Canavan brain.jpg]] |
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| − | == Treatment == |
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| + | == Biochemical disease mechanism == |
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| − | There currently no cure for Canavan's Disease. Current treatment options are purley supportive and concentrate only on the symptoms. |
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| + | Much of the disease mechanism still lies in the dark; mutations causing the disease have been traced to a gene encoding for [[Aspartoacyclase http://www.ncbi.nlm.nih.gov/omim/608034]], an enzyme that catalyzes the hydrolysis of N-Acetate aspartate into acetate and aspartate. It is made up of six exons in a gene called ASPA on the 17th chromosome, and its overall length is 313 amino acids. |
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| − | === Cross-references === |
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| − | See also description of this disease in |
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| − | * specific link to Wikipedia |
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| − | * specific link to HGMD |
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| − | * specific link to OMIM |
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| − | ... (see [[Resource data|databases in "resources"]]) |
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| − | == Biochemical disease mechanism == |
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| − | The example protein is involved in the example pathway... |
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| − | Ideally, include a graphical pathway representation like this one: [[Image:SphingolipidMetabolism.png|frame|Sphingolipid Metabolism (source: KEGG) highlighting disease associated enzymes]] |
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| + | == Cross-Reference == |
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| − | (see above: own words, no plagiarism) |
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| + | * [[http://www.ncbi.nlm.nih.gov/omim/271900|OMIM]] |
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| + | * [[http://en.wikipedia.org/wiki/Canavan_disease|Wikipedia]] |
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| + | * [[http://www.nlm.nih.gov/medlineplus/ency/article/001586.htm|MedLine Plus]] |
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| + | * [[http://www.ncbi.nlm.nih.gov/books/NBK1234/|NCBI Bookshelf]] |
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| + | * [[http://www.uniprot.org/uniprot/P45381|Uniprot]] |
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| − | <br style="clear: both" /> |
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| − | === Cross-references === |
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| − | * link to KEGG |
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| − | * link to MetaCyc |
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| − | ... see [[Resource data|databases in "resources"]] |
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| − | == Mutations == |
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| − | 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. |
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| + | == Mutations == |
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| − | '''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. |
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=== Reference sequence === |
=== Reference sequence === |
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| + | [[Reference_Sequence_Aspartoacyclase|Reference Sequence from UniProt]] |
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| − | Which sequence does not cause the disease and is most often found in the population. |
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| − | * [[example_sequence|Create a page for the reference sequence.]] |
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=== Neutral mutations === |
=== Neutral mutations === |
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Revision as of 17:15, 23 May 2011
Contents
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 rareley 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 axons by an as-of-yet unknown mechanism, although the compound [aspartate] appears to play a role in this process.
Biochemical disease mechanism
Much of the disease mechanism still lies in the dark; mutations causing the disease have been traced to a gene encoding for Aspartoacyclase http://www.ncbi.nlm.nih.gov/omim/608034, an enzyme that catalyzes the hydrolysis of N-Acetate aspartate into acetate and aspartate. It is made up of six exons in a gene called ASPA on the 17th chromosome, and its overall length is 313 amino acids.
Cross-Reference
Mutations
Reference sequence
Reference Sequence from UniProt
