Difference between revisions of "Canavan Disease 2012"
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== Phenotype == |
== Phenotype == |
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| + | Typical and always |
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| − | |||
* macrocephaly (abnormally large head) |
* macrocephaly (abnormally large head) |
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| − | * limited motoric abilities that decrease as the disease progresses. |
+ | * limited motoric abilities that decrease as the disease progresses. These include: |
** not being able to crawl, sit, walk, or talk |
** not being able to crawl, sit, walk, or talk |
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** weak neck muscles that cause poor head control |
** weak neck muscles that cause poor head control |
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| − | ** hypotonia in general |
+ | ** hypotonia in general |
| − | * seizures can occur |
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* mental retardation |
* mental retardation |
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| + | Not always but can occur as the disease progresses: |
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| − | * eventual blindness |
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| + | * seizures |
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| + | * hypotonia leading to paralysis |
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| + | * blindness |
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| + | * deafness |
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Phenotypic description of the disease. |
Phenotypic description of the disease. |
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Revision as of 12:53, 18 April 2012
Coming soon. Until then, go read some poetry!
Ent:
When spring unfolds the beechen leaf, and sap is in the bough
when light is on the wild-wood stream, and wind is on the brow
when stride is long, and breath is deep, and keen the mountain air
come back to me! Come back to me! And say my land is fair.
(Tolkien)
Contents
Summary
The Canavan Disease is a rare genetic, degenerate disorder of the brain. It is always fatal, with patients dying in between the first decades of their life.
It is named after Myrtelle Canavan, who described the Disease for the first time in 1931. (http://www.morbus-canavan.com/canavansdisease.htm)
Canavan Disease appears most often in ethnic groups of eastern and central European Jewish descent. Out of these Jewish communities, the Ashkenazi Jews form the largest community. Today they account for approximately uo to 80 percent of Jews worldwide. 2% of the Ashkenazi are carriers of Canavan disease, which means that 1 out of 40 persons carriers a mutated allele.
Up to now, there is no final cure for Canavan Disease and treatment mainly focuses on managing the symptoms.
Phenotype
Typical and always
- macrocephaly (abnormally large head)
- limited motoric abilities that decrease as the disease progresses. These include:
- not being able to crawl, sit, walk, or talk
- weak neck muscles that cause poor head control
- hypotonia in general
- mental retardation
Not always but can occur as the disease progresses:
- seizures
- hypotonia leading to paralysis
- blindness
- deafness
Phenotypic description of the disease.
(Describe this in your own words, avoid plagiarism. Summarise the information from different sources.)
http://www.ncbi.nlm.nih.gov/books/NBK1234/ http://www.canavanfoundation.org/canavan.php
Classification and Types
Canavan Disease belongs to a group of disorders called Leukodystrophies. Leukodystrophies are metabolic disorders that are characterized by dysfunction of the white brain matter.
Heredity
geno
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: Until further notice 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.
Neutral mutations
Disease causing mutations
Diagnosis
- prenatal: NAA, mut ana
- postnatal: NAA, neuroimg, mut ana
