Batten's disease

Batten's Disease is a rare, fatal, inherited disorder of the nervous system that typically begins in childhood. The disease is named after the British pediatrician who first described it in 1903, Dr. Frederick Batten. It is the most common form of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs).

Symptoms

The first symptoms of Batten's Disease are typically vision loss and seizures. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten's Disease become blind, bedridden, and demented. Batten's Disease is often fatal by the late teens or twenties.

Causes

Batten's Disease is caused by mutations in the CLN3 gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the brain. The CLN3 protein is located in the membrane of lysosomes, which are compartments within cells that break down and recycle different types of molecules. Mutations in the CLN3 gene disrupt the normal function of lysosomes and lead to the accumulation of proteins and lipids within cells. This accumulation causes cells to die, particularly in the brain and eye.

Diagnosis

Diagnosis of Batten's Disease is based on clinical features, such as the onset of seizures and vision loss, as well as specific changes seen on electroencephalogram (EEG) and magnetic resonance imaging (MRI). Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Batten's Disease. Treatment is focused on managing symptoms and providing support. Medications may be used to control or reduce seizures. Physical and occupational therapy can help maintain motor skills and function for as long as possible.

Research

Research into Batten's Disease is focused on understanding the function of the CLN3 protein and how mutations in the CLN3 gene lead to the symptoms of the disease. This research may lead to new treatments in the future.

See also

• Neuronal ceroid lipofuscinoses
• Genetic disorder
• Lysosomal storage disease

NIH genetic and rare disease info

• NIH info on Batten's disease

Batten's disease is a rare disease.

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