What Is Batten Disease?
Batten disease is a rare group of nervous system disorders that get worse over time. It's also called neuronal ceroid lipofuscinosis (NCLs) or ceroid lipofuscinosis, neuronal (CLN).
The damage is caused by the buildup of fatty substances, called lipopigments, in the cells of the brain, central nervous system, and retina in the eye. There are 14 different forms of the disease categorized by the age at which symptoms appear:
- Infantile
- Late infantile
- Juvenile
- Adult
It usually starts in childhood, between the ages of 5 and 10, unless the child has the infantile or late infantile form, in which case symptoms usually develop before the age of 1. Most forms are fatal, usually by the late teens or twenties.
It’s estimated that about 2 to 4 out of every 100,000 babies born in the U.S. have this disease that’s passed down through families. Since it’s genetic, it can affect more than one person in the same family. In most cases, both parents have to be carriers of the gene to pass it down, and each one of their children has a 1 in 4 chance of getting it. In some forms, only one copy of the gene is required to be affected.
Types of Batten Disease
Originally, doctors only referred to one form of NCL as Batten disease, but now the name refers to the group of disorders. Of the 14 types, all those that affect children can cause blindness.
Congenital NCL (CLN10). Affects babies and can cause them to be born with seizures and abnormally small heads (microcephaly).
Infantile NCL (CLN1 or INCL). Usually shows up between the ages of 6 months and 2 years, but usually before age 1. It can also cause microcephaly and sharp twitches (jerks) in the muscles. There is also a juvenile onset of CLN1, in which abnormalities develop around age 5 or 6, and disease progression is slower.
Late infantile NCL (CLN2, LINCL, or TTP1 deficiency). Typically starts between the ages of 2 and 4. Symptoms include seizures and a gradual loss of the ability to walk and speak. In symptomatic pediatric patients aged 3 years or older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), treatment may slow the loss of ability to walk or crawl (ambulation).
Juvenile Batten disease (CLN3). Typically starts between ages 4 and 7. Progressive vision loss begins between 4 and 7 years of age. Learning and behavioral problems occur, there is cognitive decline, and patients can start having seizures around age 10. Seizures may be controlled or reduced with anti-seizure medications. Children in their teenage years develop parkinsonism-like symptoms. Medicines are available to treat some of the parkinsonism symptoms, such as stiffness and difficulty walking/doing tasks, and spasticity (muscle stiffness).
Adult NCL (CLN4, or ANCL, or Kufs disease type B). Starts before the age of 40, or early adulthood. These patients have problems with movement and early dementia. The symptoms of ANCL are milder, and they tend to progress more slowly. This form of the disease does not always result in blindness.
Batten Disease Symptoms
Over time, Batten disease damages the brain and nervous system. The specific type determines the age when symptoms occur and how fast they develop. Symptoms include:
Batten Disease Diagnosis
Batten disease is often misdiagnosed because it’s rare and many conditions share some of the same symptoms. Since vision loss is usually one of the earliest signs of the disease, eye doctors can be the first ones to suspect a problem. Multiple exams and tests might be needed before your doctor makes a diagnosis. Doctors often refer children to neurologists if they think they need more tests.
There are different kinds of tests a neurologist can use to diagnose Batten disease:
Tissue samples or eye exam. By examining tissue samples under a microscope, doctors can look for the buildup of certain kinds of deposits. Sometimes doctors can see these deposits just by looking into a child’s eyes. As the deposits build up over time, they can cause pink and orange circles to develop. This is called a “bull’s eye.”
Blood or urine tests. Doctors can look for certain kinds of abnormalities in blood and urine samples that can indicate Batten disease.
Electroencephalogram (EEG). This is a test that involves putting patches on the scalp to record the brain’s electrical currents and look for seizures.
Imaging tests. CT scans or MRIs can help a doctor see if there are certain changes in the brain that indicate Batten disease.
DNA test. If you know members of your family have Batten disease, you can get a DNA test to confirm a diagnosis.
Batten Disease Treatment
There’s currently no known cure for any form of Batten disease, but in 2017, the FDA approved an enzyme replacement therapy called cerliponase alfa (Brineura) for late infantile NCL. Brineura is delivered directly into the cerebrospinal fluid (CSF) by infusion via a specific surgically implanted reservoir and catheter in the head (intraventricular access device).
There are no treatments that can slow or stop disease progression for other NCL disorders. But some medications can help improve symptoms like seizures. Some people with Batten disease get physical or occupational therapy to help them function. Scientists continue to research possible treatments and therapies.
Batten Disease Life Expectancy
Congenital NCL (CLN10). It’s very rare and often results in death soon after a baby is born.
Infantile NCL (CLN1 or INCL). Most children with INCL die in early to mid-childhood. Those with juvenile onset may live into their teenage years or even into adulthood if they develop symptoms in adolescence.
Late infantile NCL (CLN2, LINCL, or TTP1 deficiency). Usually fatal by the time a child is 8-12 years old.
Juvenile Batten disease (CLN3). Most die between the ages of 15 and 30.
Adult NCL (CLN4, ANCL, Kufs disease type B). People with this have shorter life spans, but the age of death can vary from person to person.
Takeaways
Batten disease is a rare group of nervous system disorders called neuronal ceroid lipofuscinosis (NCLs) or ceroid lipofuscinosis, neuronal (CLN) that get worse over time. There are 14 different forms categorized by the age symptoms appear. Most forms are fatal, usually by the late teens or twenties. Vision loss is typically one of the first symptoms. There’s currently no known cure for any form of Batten disease, but the FDA approved an enzyme replacement therapy for late infantile NCL called cerliponase alfa (Brineura) in 2017.
Batten Disease FAQs
Has anyone survived Batten disease?
There are no known survivors of Batten disease.