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Batten Disease

Juvenile form of NCL

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Updated June 18, 2014

The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders. Batten disease is the term applied to the juvenile form of NCL, although some physicians use the term to describe all forms of NCLs. The NCLs are characterized by a buildup of pigments called lipofuscins in the body's cells.

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. Researchers have identified the CLN3 gene on chromosome 16 as being associated with Batten disease. The disease is inherited in an autosomal recessive pattern, 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 10 years. Initial symptoms are loss of vision 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. A sample of skin or tissue (called a biopsy) 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. Support groups such as the Batten Disease Support and Research Association provide support and information on treatments and research.

Outlook

Eventually, children with Batten disease become blind and bedridden, and lose their ability to communicate. Batten disease is always fatal, with death usually in the late teens or early 20s.

Sources:

"Batten Disease Fact Sheet." Disorders A - Z. 04 Mar 2009. National Institute of Neurological Disorders and Stroke. 3 Jun 2009

"Information on NCL and Batten Disease." About Batten. Batten Disease Support & Research Association. 3 Jun 2009

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