NCL Disease


What is Batten Disease?

Batten disease is a group of related disorders which affects cells in the brain.

Batten disease causes a progressing loss of physical and mental abilities that includes blindness and seizures. The disease usually begins in childhood, and can occur as early as 6 months, or as late as the teenage years or even adulthood. Occasionally babies are affected at birth or soon afterwards. Children stop progressing in their development and gradually lose the ability to walk, talk, sit and respond to surroundings. This deterioration occurs over many years. Eventually increasing physical weakness combined with a brain that can no longer work well are such that life can no longer be sustained.

Batten disease is a group of diseases also called the 'neuronal ceroid lipofuscinoses' because there is a build-up of material in most cells that resembles substances called ceroid and lipofuscin, but it is the neuronal cells of the brain that are affected most and eventually die. This loss of cells is also referred to as neurodegeneration. Lipofuscin is also known as 'age pigment' because this material normally accumulates in our brain cells as we get older and our cells do not work quite so efficiently. Children with Batten disease, however, accumulate massive amounts even at a young age.

Batten disease is an inherited or genetic disease. Each type is caused by a change or 'mutation' in one of the thousands of genes that are a blueprint for who we are. The mutated gene still acts as a template but produces a faulty rather than healthy protein. This means that whatever role the protein should play in our cells is no longer possible. In the case of Batten disease, this affects the recycling centres for our cells, the 'lysosomes'. When these cannot fully recycle unwanted products or react to the changing environment there is a build up of material - it is this material that accumulates.

There are different types of Batten disease, each caused by mutations in different genes (these have names like CLN2 or CLN3). Research continues to understand the normal role of the proteins encoded by these genes, to understand what goes wrong when they cannot function. The different types of Batten disease start at different ages (often grouped such as onset at birth (congenital), in infancy, late infancy, a juvenile age and adulthood). They also progress at different rates.

At the moment for most types of Batten disease there is no treatment that can prevent or halt progress of the disease, although research is underway for most types. The symptoms of the disease can be treated, and this will vary according to the type of Batten disease and the individual. Drugs can be used to help control the seizures, relieve any muscle spasms or pain. Physiotherapy can make a child or young person more comfortable, and fun physical activities can be continued with appropriate help. If swallowing becomes difficult, help can be given with feeding, and infections arising from chestiness treated. Children and young people with Batten disease continue to appreciate a stimulating environment, through school, their family and friends. Older children may need help if they get frustrated and depressed as they are aware of the loss of their abilities. As a consequence of the disease some older children may have heart problems and psychotic difficulties that will need careful management.