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Juvenille NCL / Battens Disease News

Posted by Bee For Battens in Research News | 0 comments

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21. April 2011
 

FRANKFURT, Germany. It is a rare disease with devastating consequences: Around first grade, the children start experiencing vision impairments, which two to three years later progress to complete blindness. This is the first indication of a progressive destruction of brain cells. Later on, the patients experience hallucinations, epileptic seizures, dementia and, finally, failure of all motor abilities. In this last stage, the immobile patients must be artificially ventilated. To date, there is no therapy for Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, also called Batten disease), so patients pass away in their teens or twenties. Four years ago, the working group lead by Dr. Mika Ruonala started their research at the Center for Membrane Proteomics of the Goethe University to study the consequences of the underlying genetic defect on the whole complex network of cellular proteins., In the meantime, by studying a JNCL mouse model with a novel method of fluorescence microscopy the scientists have detected several ‘biomarkers’ that can now be used in search for screening for potentially active drugs in cooperation with the Harvard Medical School in Boston, USA

 

 

 

 

http://www.muk.uni-frankfurt.de/news/hp-en/ncl/index.html

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