Batten disease

The neuronal ceroid lipofuscinoses (NCL or CLN), also referred to as VSS or outdated as amaurotic idiocy, are a group of rare, autosomal recessive and as yet incurable metabolic disease that can occur in different forms and ages. The disease usually occurs at age 1-8 years, with a maximum incidence rate of 1:30,000 live births. Meanwhile, nine NCL types ( CLN1 CLN9 ) are known, the types CLN1 and CLN4 also only can occur in adulthood. The neuronal ceroid lipofuscinoses are among the lysosomal storage diseases.

The term neuronal ceroid lipofuscinoses ( NCL) is derived from:

• Neurons, nerve cells
• Ceroid, a waxy substance
• Lipofuscin, a greasy, brownish substance

History

The disease was first described in 1826 by the Norwegian Country Doctor stem the basis of four siblings and named until 1903 Stengelsche disease. Later was the term Batten disease ( still in the English language as a common batten disease ) and Vogt- Spielmeyer Stick disease (VSS, still used in Germany ) are common. The fact that it is a metabolic disease, was detected in 1939. For the fats and proteins that accumulate as waste products in the cells, in 1963 the name was coined ceroid lipofuscin pigment. In 1995 it was discovered that a genetic defect - namely, the loss of a chromosome segment - is the cause of the disease. The fact that the person concerned a lysosomal enzyme is missing, which is required for the degradation of waste materials in the cells has been known since 1998.

Disease

The pathophysiology of NCL is still largely unknown. What is certain is that all forms waxy ceroid Lipofuszine - from fats and proteins existing wastes of cellular metabolism - are stored intracellularly in the tissues. This makes the cell environment is toxic, leading to the destruction of healthy cells.

Initially, the disease manifests itself through increasing visual impairment, which eventually leads to complete blindness by damaging the retina ( retinopathy). Concomitantly occur in those affected hallucinations, epilepsy and dementia. Ultimately, the patient loses all cognitive and motor skills. Since each NCL form inevitably leads to death, palliative treatment methods are merely possible.

Classification

In the past, the classification of NCL types targeted by the age of onset, terms such as infantile, late infantile or juvenile NCL were accordingly used. The modern classification is done on a genetic basis, the numbering of each type ( CLN1, CLN2, etc.) takes place according to the historical order of discovery.