Encyclopedia > Lafora disease

  Article Content

Lafora disease

Lafora disease is a hereditary disease characterised by the presence of inclusion bodies, known as Lafora bodies, within the cells of neurons, heart, liver, muscle and skin. The patients develop the first symptoms mainly during adolescence and major problems are seizure, drop attacks, myoclonus[?], ataxia and most importantly a very quickly developing, progressive and severe dementia. Diagnosis is based on the demonstration of Lafora bodies within the sweat cells of the skin by an axillary skin biopsy examination. The inclusion bodies (which seem to comprise high levels of carbohydrates) are typically labeled by a specific stain called PAS (periodic acid-Schiff). Neither the origin of these inclusions nor the exact mechanisms how they cause the disease are known. Genetic studies have recently disclosed that a gene (named as EPM2A) encoding the protein laforin is strongly associated with the disease. There is no treatment and the therapy is mainly supportive and symptomatic. Although seizure and myoclonus can be controlled for a long period by using antiepileptic drugs, patients are usually lost within one or two decades due to the devastating effects of dementia and ataxia.



All Wikipedia text is available under the terms of the GNU Free Documentation License

 
  Search Encyclopedia

Search over one million articles, find something about almost anything!
 
 
  
  Featured Article
U.S. presidential election, 1804

... 1804 Presidential CandidateElectoral Vote Party Running Mate(Electoral Votes) Thomas Jefferson (W) 162 Democratic-Republican George Clinton ...

 
 
 
This page was created in 21.9 ms