Batten disease is the most common of the NCLs. It affects both males and females and people of all ethnic backgrounds, although it appears to be more common in Finland, Sweden, other parts of northern Europe, and Newfoundland, Canada. Batten disease is estimated to occur in 2 to 4 of every 100,000 live births in the United States. Batten disease is inherited in an autosomal recessive manner, meaning that it occurs only when a child inherits two copies of the defective gene, one from each parent.
Symptoms
Symptoms of Batten disease generally begin between ages 5 and 8 years. Initial symptoms are visual loss or seizures. Over time, loss of muscle control (ataxia), moderate wasting of brain tissue (cerebral atrophy), progressive loss of sight, and dementia occur.
Diagnosis
Batten disease is diagnosed based on the symptoms the child is experiencing. Parents or the child’s pediatrician may notice that the child has begun to develop vision problems or seizures. Special electrical studies of the eyes, such visual-evoked response or electroretinogram (ERG), may be done. In addition, diagnostic tests such as electroencephalogram (EEG, to look for seizure activity) and magnetic resonance imaging (MRI, to look for changes in the brain) may be done. Samples of skin or tissue may be examined under a microscope to look for the buildup of lipofuscins.
Treatment
No specific treatment is yet available to cure or slow the progression of Batten disease. Seizures can be controlled with antiseizure medications, and other medical problems can be treated as needed. Individuals with Batten disease have a life expectancy of 20s–40s. Support groups such as the Batten Disease Support and Research Association provide support and information on treatments and research.
Research
Researchers have identified the CLN3 gene on chromosome 16 as being associated with Batten disease. A study published in the December 1, 2005, issue of Human Molecular Genetics identified a defect in transport of the amino acid arginine in cells of children affected by Batten disease. They correlated this biochemical defect with mutation in the CLN3 gene. Research continues to determine exactly how the arginine transport defect is linked to the symptoms of Batten disease.
Last updated 2/16/06
Information for this article was taken from:
- National Institute of Neurological Disorders and Stroke. What is Batten disease?
- Ramirez-Montealegre, D, & Pearce, D.A. (2005). Defective lysosomal arginine transport in juvenile Batten disease. Human Molecular Genetics, vol. 14, no. 23, pp. 3759-3773.
