| dc.description.abstract | Lafora disease is an autosomal recessive neurodegenerative disease described first by Lafora and Glück in 1911. The typical symptom of Lafora disease is the accumulation of intracellular polyglucosan bodies, among others in the nervous tissue, more exactly within neurons of the brain. While the appearance of such formations is harmless in many cases, it can also be an accompanying symptom of epilepsy. More exactly Lafora bodies appear in the brain of patients diagnosed with progressive myoclonus epilepsy.
Since my own dog had been diagnosed with idiopathic epilepsy, my interest turned towards Lafora disease. My thesis was prepared aiming at reviewing the relevant literature concerning the present knowledge about the genetic and biochemical background, the clinical and pathological findings potential treatments and comparison between canine and human forms of the disease.
I give an overview of storage disease in general and explain in brief their autosomal recessive inheritance. The biochemical malformation of the polyglucosan is discussed, the material of Lafora bodies as a result of failure in the function of laforin phosphatase and malin E3 ubiquitin ligase. I also deal with the sites of accumulation with special regard to neurons.
The thesis contains moreover the comparative description of human and canine Lafora disease drawing attention to differences and emphasizing difficulties concerning the treatment both in human and canine patients.
In conclusion, this is a rather rare form of epilepsy, there is no treatment leading to complete recovery available, only the delay of progression can be reached and the prolongation of the acceptable way of life. | en |
