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What Is Batten Disease?

Medically Reviewed by Amita Shroff, MD on April 17, 2021

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. It usually starts in childhood, between the ages of 5 and 10 (unless the child has the infantile or late infantile form and symptoms then usually develop before the age of 1). There are different forms of the disease but all are fatal, usually by the late teens or twenties (Children with the disease have a shortened life expectancy and the increased risk for early death depends on the form of the disease and the age of onset of the disease). 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.

Out of every 100,000 babies born in the United States, it’s estimated that about two to four have this disease that’s passed down through families. Since it’s genetic, it can affect more than one person in the same family. Both parents have to be carriers of the gene in order to pass it down. Each one of their children has a one in four chance of getting it.

Symptoms

Over time, Batten disease damages the brain and nervous system. There are four main types of this condition. These are their common symptoms:

  • Seizures
  • Changes in personality and behavior
  • Dementia
  • Speech and motor skills problems that get worse over time

There are four major types of Batten disease. The type will determine the age when symptoms occur and how fast they develop. There is no cure for these disorders but a treatment for one of the forms (CLN2 disease) has been approved by the U.S. Food and Drug Administration in 2017 (See below).  

The Types

Originally, doctors only referred to one form of NCL as Batten disease, but now the name refers to the group of disorders. Of the four major types, the three that affect children all cause blindness.

Congenital NCL affects babies and can cause them to be born with seizures and abnormally small heads (microcephaly). It’s very rare, and often results in death soon after a baby is born.

Infantile NCL (INCL) (CLN1) usually shows up between the ages of 6 months and 2 years, (but usually before age 1). It also can cause microcephaly, as well as sharp contractions (jerks) in the muscles. Most children with INCL die in early to mid-childhood).  (There is also a juvenile onset of CLN1, abnormalities develop around age 5/6 and disease progression is slower.  Affected children may live into their teenage years or even into adulthood if they develop the symptoms in the adolescence period). 

Late Infantile NCL (LINCL) (CLN2) typically starts between the ages of 2 and 4 with symptoms like seizures and gradually lose the ability to walk and speak.  LINCL is usually fatal by the time a child is 8 to 12 years old. There is no specific treatment that can cure or reverse the symptoms of any form of Batten disease but in 2017 the Food and Drug Administration approved an enzyme replacement therapy for CLN2 disease (TTP1 deficiency) called cerliponase alfa (Brineura). Brineura is a prescription medication used to slow loss of ability to walk or crawl (ambulation) in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2).  Brineura is administered 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. 

CLN3 disease: Juvenile onset (ages 4-7). Progressive vision loss begins between 4-7 yrs old.  Learning and behavioral problem occur, there is cognitive decline and patients can start having seizures around age 10.  Seizures may be controlled or reduced with antiseizure medications.  Children in their teenage years develop Parkinsonism like symptoms.  Medicines are available to treat some of the parkinsonism symptoms (stiffness and difficulty with walking/doing tasks), and spasticity (muscle stiffness).   Most die between the age of 15-30.  

Adult NCL (ANCL) (CLN4 or Kufs disease type B) starts before the age of 40 (early adulthood). These patients have problems with movement and early dementia.   People who have it have shorter life spans, but the age of death can vary from person to person. The symptoms of ANCL are milder and they tend to progress more slowly. This form of the disease does not result in blindness.

Diagnosis and Tests

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 (computed tomography) scans or MRIs (magnetic resonance imaging) 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.

Treatment

There’s currently no known cure for any form of Batten disease, but the FDA approved an enzyme replacement therapy for CLN2 disease (TTP1 deficiency) called cerliponase alfa (Brineura) for one of the forms (CLN2 disease) in 2017. Symptoms like seizures can be improved with certain medications. Other symptoms and issues can be treated too. Some people with Batten disease get physical or occupational therapy to help them function. Scientists continue to research possible treatments and therapies.

WebMD Medical Reference

Sources

SOURCES:

National Institutes of Health: “Batten Disease Fact Sheet.”

Beyond Batten Disease Foundation: “Diagnosis/Symptoms.”

Taylor’s Tale: “Batten Disease.”

Batten Disease Support and Research Association: “What Is Batten Disease?”

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