Frequently Asked Questions About Batten Disease
What causes Batten disease?
Batten disease, and all other NCLs, are inherited conditions that mostly affect the function of the brain. Many NCLs cause the body’s cells, especially brain cells, to lose the ability to dispose of waste products. The symptoms of NCLs happen because cells cannot function well with the buildup of waste products and start dying off.
What are the symptoms of Batten disease?
During the progression of Batten disease, symptoms can be different in each child. They can include:
- Seizures (epilepsy)
- Speech delays
- Unsteady walking (ataxia)
- Loss of motor skills and the ability to walk, talk and communicate
- Cognitive decline
- Visual impairment/blindness
- Jerking movement of the muscles (myoclonus)
- Personality and behavior changes
- Psychiatric symptoms, such as aggression
- Extrapyramidal symptoms, such as spasms, restlessness, rigidity, tremors or jerky movements
How is Batten disease diagnosed?
Batten disease can be diagnosed if your doctor orders tests to specifically identify the presence of genetic changes in the NCL genes. A variety of tests are conducted to accurately confirm a NCL diagnosis, including:
- Blood or urine tests can help detect abnormalities in cells that may suggest a NCL.
- Measurement of enzyme activity specific to CLN1 or CLN2 may identify low levels of these protein enzymes in the blood, which will lead to a diagnosis of those specific diseases.
- DNA analysis is usually utilized to confirm a diagnosis by finding the specific genetic changes causing the disease. This test is typically obtained from blood, saliva, or skin.
- Electroencephalogram (EEG) records electrical activity in the brain through electrode patches placed on the scalp. Physicians use painless and noninvasive EEGs to look for signs of seizures typical of certain NCL diseases.
- Studies to measure how the eyes convert light to nerve signals are used since vision loss is the most common first symptom of CLN3 Batten disease. Visual-evoked responses and electroretinograms are effective tests for detecting various eye conditions common in childhood NCLs.
- Computed tomography (CT) or magnetic resonance imaging (MRI) are diagnostic imaging tests which allow physicians to better visualize the appearance of the brain. MRI imaging test uses magnetic fields to help create images of the brain. CT scan uses x-rays and computers to create a detailed image of the brain’s tissues and structures. Both diagnostic imaging test can help reveal brain areas that are atrophic, or reduced in volume, in persons with NCL.
- Skin or tissue sampling is performed by extracting a small piece of tissue, which then is examined under an electron microscope. This can allow physicians to detect typical NCL deposits. These deposits are common in tissues such as skin, muscle, conjunctiva, and rectum.
How is Batten disease treated?
In April 2017 the FDA approved Brineura™ as a treatment for late infantile Batten (CLN2) disease. There is no specific treatment is known that can halt or reverse the symptoms any other forms of NCLs.
For all forms, seizures can be reduced or controlled with anticonvulsant drugs, and psychiatric and motor problems can be managed with medication. Physical therapy and occupational therapy may help patients retain motor functioning as long as possible.
How is Brineura™ administered at CHOC?
Brineura™ is a type of treatment called enzyme replacement therapy (ERT). It’s administered through intraventricular infusion – a method that allows Brineura™ to be directly delivered into the fluid surrounding the brain, known as the cerebrospinal fluid, to get to cells of the brain.
CHOC metabolic specialists work closely with our neurosurgery physicians and the nurses of our Neuroscience Institute to administer the medicine. Each CLN2 patient has an Ommaya reservoir implanted under their scalp, which allows the medicine to be infused directly into the ventricle of the brain.
Every 14 days, a CHOC neurosurgeon and a team of highly trained nurses use highly sterile techniques to insert a needle into the patient’s Ommaya reservoir to administer the medication. The infusion lasts four hours, and after an hour of observation without side effects, the patients can go home.