Canavan Disease 2012

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Revision as of 13:29, 18 April 2012 by Vorbergs (talk | contribs) (Mutations)

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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.



The Canavan Disease is a rare genetic, degenerate disorder of the brain. It is always fatal, with patients dying after weeks or the first decades of their life, depending on the type of Canavan disease. Other names or descriptions include spongy degeneration of the brain or Aspartoacylase deficiency.

It is named after Myrtelle Canavan, who described the Disease for the first time in 1931. (

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: Signs and symptoms

Typical symptoms that occur in Canavan patients after the first weeks of life include:

  • 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
  • abnormal muscle tone (e.g., stiffness or floppiness)

These symptoms may be followed by:

  • seizures
  • hypotonia leading to paralysis
  • blindness
  • deafness

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.

With respect to Canavan disease, the dysfunction of white matter expresses as a spongy degeneration and a swelling of glial cells.


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)


  • link to KEGG
  • link to MetaCyc

... see databases in "resources"


- > 50 bekannt. omim und entrez fuer (neutrale) muts

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

Effect of mutations

siehe folien, die armen axons ohne myelin


  • prenatal: NAA, mut ana
  • postnatal: NAA, neuroimg, mut ana

NAA urine war irgendeine Chromatographie, nur kurz erwähnen oder beim echten wikipedia verlinken