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What is Batten Disease
How are these diseases inherited?
The NCLs are autosomal recessive disorders which means that they occur only when a child inherits two copies of the defective gene, one from each parent. If both of the parents carry the abnormal gene each of their children faces a one in four chance of developing NCL. Each child also faces a one in two chance of inheriting just one copy of the defective gene and therefore being a carrier, meaning they do not develop the disease, but they can pass the gene on to their own children. Finally each child has a one in four chance of being free of the defective gene and the disease.
Adult NCL may also be inherited as an autosomal recessive (Kufs) or, less often, as an autosomal dominant (Parrys) disorder . In autosomal dominant inheritance, all people who inherit a single copy of the disease gene develop the disease. As a result, there are no unaffected carriers of the gene.
What causes these diseases?
All of the Batten Disease proteins seem to be involved with the function of the lysosome which is a tiny part of a cell that is involved in breaking down and recycling certain chemicals. When this process doesn't work properly, symptoms of the NCLs have been linked to a buildup of lipopigments in the tissues of the body which results in cell deth. These lipopigments are made up of fats and proteins and build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.
How are these diseases diagnosed?
Diagnoses may include neurophysiology tests, samples for microscopy, or blood samples for enzyme assay which can now give a diagnosis without the need for a biopsy.
- Neurophysiology: These tests involve measuring brain activity with electrodes on the scalp and include electro-encephalogram (EEG), Electro-retinogram (ERG) and visual evoked potentials (VEP).
- Neuroradiology: Brain imaging through MRI or CRT is performed as part of the investigation of children with multiple seizures and developmental regression.
- Biochemical tests
What are the treatments for these diseases?
Treatment for all forms of the NCLs is essentially palliative and there are no specific ttherapies that can halt or reverse the symptoms. However, medication can be used to control seizures and other medical problems. The use of physiotherapy, occupational therapy and nutritional support can help to preserve function and maintain quality of life for as long as possible.
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