NCL is the abbreviation of "Neuronal Ceroid Lipofuscinosis", a metabolic disorder that causes an increasing decease of nerve cells. There are distinct subtypes that differ primarily in two points: firstly, the age of the child, when the first symptoms arise, secondly the celerity of the disease´s proceeding. All forms share the feature, that they are incurable at present.

 

One out of 25.000-40.000 newborns is struck by the juvenile NCL (jNCL). The disease is caused by an error in the genetic material, which is inherited by an autosomal recessive manner. The affected gene lies on chromosome 16. The error leads to an accumulation of abnormal, adipic like substances in the nerve cells, because the essential structural protein needed for natural metabolism is missing. Thus the cell cannot be cleansed of the harmful substances, arisen from the daily energy production, the neuronal cell gets dirty and dies off. First of all the eyes are concerned, short time later also the brain.

The children lose successively the ability to see, to walk and to act. At the final stage the life-supporting functions cannot be longer sustained.