Difference between revisions of "Tay-Sachs Disease 2011"

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=== Cross-references ===
=== Cross-references ===
See also description of this disease in
See also description of this disease in
*[http://en.wikipedia.org/wiki/Tay–Sachs_disease Wikipedia]
*[http://www.ncbi.nlm.nih.gov/omim/272800 OMIM]
*[http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm NINDS ]
*[http://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v%3Aproject=medlineplus&query=Tay+Sachs+disease&x=0&y=0 MedlinePlus]
*[http://www.ncbi.nlm.nih.gov/pubmed?term=Tay%20Sachs%20disease PubMed]
== Biochemical disease mechanism ==
== Biochemical disease mechanism ==

Revision as of 16:53, 12 May 2011


The Tay-Sachs disease (TSD) is a rare autosomal, recessive genetic disorder which is caused by accumulation of lipids in the brain. This leads to the cell death of those neurons. There exist three different variations of the TSD. The most common one is the Infantile Tay-Sachs disease which affects death of the children under the age of 5. The two other variants are the Juvenile and Adult/Late Onset TSD, which are less aggressive. The disease causes a deterioration of mental and physical abilities. Sadly, there currently exists no treatment.


Infantile Tay-Sachs disease:

The most common and aggressive form of TSD is the infantile TSD, which has a lot of different symptoms and leads to the early death of the affected children. The most common symptoms are:

  • normal development in the first six month after birth
  • "cherry-red" macula
  • paralysis
  • dementia
  • blindness
  • deafness
  • muscle atrophy
  • startle response to sound stimuli
  • inability to coordinate muscle movement (child can't roll over and sit)
  • death in the second or third year

Juvenile and Adult TSD:

This forms of the Tay-Sachs disease occur later in lifetime. These two forms were not always recogniced as variants of the TSD. The symptomes of these forms are less aggressive. Often the patients become wheelchair users and have some psychiatric and physical limitation, which could be handled with drugs.


See also description of this disease in

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"


Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations.

Reference sequence

Which sequence does not cause the disease and is most often found in the population.

Neutral mutations

Disease causing mutations