Batten Disease – Causes of Batten Disease

                                                                                         

Batten disease is a fatal, inherited disorder of the nervous system that begins in childhood. Early symptoms of this disorder usually appear between the ages of 5 and 10, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling.

Batten disease is the most common form of a group of rare disorders known as neuronal ceroid lipofuscinoses (NCLs). Batten disease is an inherited genetic disorder that causes a build-up of lipopigments in the body’s tissue. Batten disease refers to the juvenile form of NCL, but the other forms of NCL can also be referred to as Batten disease. About 2-4 of every 100,000 births are affected.

Batten disease is a rare disorder caused by the abnormal build-up of substances called lipopigments in the brain, eyes, and other parts of the body. Lipopigments are made up of fats and proteins. The build-up of lipopigments in the brain causes parts of the brain to decay. The build-up of lipopigments in the eyes causes blindness.

Causes of Batten disease

The biochemical defects causing NCLs have not been identified. Some scientists suspect these abnormal deposits result from a shortage of enzymes normally responsible for the breakdown of lipopigments. According to this theory, diseased cells produce inadequate amounts of enzymes or manufacture defective enzymes that function poorly. As a result, the cells can not process enough of the lipopigments that occur within them, and the lipopigments accumulate.

Batten disease is caused by abnormalities in genes that are involved with the production and use of certain body proteins. The disease results in a build-up of fats and proteins called lipopigments in the cells of the brain, eyes, skin, and other tissues.

The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues. Inside the cells, these pigments form deposits with distinctive shapes that can be seen under an electron microscope. Some look like half-moons (or comas) and are called curvilinear bodies, others look like fingerprints and are called fingerprint inclusion bodies and still others resemble gravel (or sand) and are called granual osmophilic deposits (grods).

As yet, no treatment has been shown to stop or reverse the symptoms of Batten disease. Medicines can sometimes reduce or stop the seizures. And physical therapy can help patients maintain control over their movements for some time.

Batten Disease is rarely diagnosed immediately and is often mistaken for epilepsy, mental retardation, retinitis pigmentosa or even schizophrenia in adults. Onset is characterized by beginning vision loss, seizures, clumsiness and personality and behavior changes. After onset, Batten Disease causes continuing physical and mental deterioration leading to death.

Batten disease is sometimes considered the juvenile form of the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by abnormal accumulation of certain fatty, granular substances (i.e., pigmented lipids [lipopigments] ceroid and lipofuscin) within nerve cells (neurons) of the brain as well as other tissues of the body that may result in progressive deterioration (atrophy) of certain areas of the brain, neurological impairment, and other characteristic symptoms and physical findings.

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