Batten Disease

What Is Batten Disease?

Batten diseases (Neuronal ceroid lipofuscinoses, NCLs) are a collection of genetic diseases that affect the nervous system. Most Batten diseases start in childhood, although rarely symptoms can start in adulthood. Symptoms in Batten diseases worsen over time and lead to early death. Currently, there is only one form of Batten disease (CLN2 disease) that has a treatment.

Batten diseases are rare diseases. In the United States, a rare disease is one that affects fewer than 200,000 people. Batten diseases affect about 2–4 out of every 100,000 live births in the United States. It's more common in people of Scandinavian or Northern European descent, and in Finland, Sweden, and Newfoundland, Canada. For most types of Batten diseases, siblings of someone with Batten disease have a 25% chance of also having the disease.

Most people have normal development until Batten disease symptoms start. The first symptoms of Batten diseases may be different for different types of Batten diseases.

People with Batten diseases will develop:

Vision loss (causing blindness)
Seizures
Problems with thinking and learning (dementia)
Speech delays or loss of speech
Balance problems
Abnormal movements

Batten disease is a genetic disorder that occurs when both parents have mutations in the same gene. The gene that causes Batten disease impacts the body’s ability to break down and dispose of cellular waste. The body will stop working because of the buildup of the waste.

Batten diseases are usually diagnosed by genetic testing.

Other types of testing may be helpful, including:

Blood tests for enzyme levels
Electroencephalogram (EEG, a brain wave test)
MRI of the brain
It is helpful to meet with a genetic counselor when getting testing for Batten diseases. They will explain how Batten diseases are inherited, and the risk of having other family members develop the disease.

UR Medicine's Treatments for Batten Disease

Currently, there is no cure for Batten disease. There is one treatment for CLN2 disease (cerliponase alfa, Brineura) that may help slow down the disease. With this treatment, patients get a special device in their skull that connects to the fluid in their brains. Every other week, the device sends medication to the brain. This is a very specialized treatment that requires a provider to have specific expertise. At the University of Rochester Batten Center (URBC), multiple specialists have expertise in giving this medication.

For all forms of Batten diseases, treatments for symptoms of the diseases can be helpful. At the URBC, we can help families navigate the different ways to approach symptoms. We can also discuss these options with your local neurologist.

Research and Clinical Trials Participation

Our providers at the URBC are actively engaged in research regarding the progression of Batten disease, defining behavioral and cognitive features of the disease, the varying severity of the disease, and clinical trials for experimental therapy. Each family has the opportunity to participate in our research, but it is not a requirement in to be evaluated. There is no charge for participating in our research.

In addition to diagnosis, treatment, and research, we also provide educational consultation to help your child receive the right accommodations and care.

What Sets Us Apart?

The University of Rochester Batten Center is a comprehensive Batten disease clinical and research center UR Medicine in Rochester. The URBC provides support and clinical services, contributes new knowledge, and works to find treatments that will slow, halt, or prevent disease in persons with Batten Disease.

The URBC has been recognized by the Batten Disease Support and Research Association as a Batten Disease Center of Excellence.