Batten Disease

What is neuronal ceroid lipofuscinosis (NCL) or Batten disease?

Neuronal ceroid lipofuscinosis or Batten disease is a fatal, inherited nervous system disorder that typically develops in childhood.

Batten disease is linked to a buildup of substances called lipopigments in body tissues. Lipopigments are made up of fats and proteins. As these lipopigments accumulate, they kill neurons in the brain, retina and central nervous system.

Batten disease is one of the most common lysosomal storage disorders and is often fatal by the late teens or twenties.

There are four main types of Batten disease (although there are more forms).

• Infantile NCL – begins before age 2 and progresses quickly, normal lifespan is under 8 years
• Late infantile NCL – begins between 2 to 4 years of age; normal lifespan is 8 to 12 years
• Juvenile NCL – begins between ages 5 and 8; normal lifespan is teens to early 20s.
• Adult NCL – begins before age 40; lifespan varies

Batten disease is rare, occurring in about 2-4 out of every 100,000 births in the United States.

What are the symptoms of neuronal ceroid lipofuscinosis (NCL) or Batten disease?

• Seizures
• Visual impairment/blindness
• Personality and behavior changes
• Dementia
• Loss of motor skills and the ability to walk, talk and communicate

What causes neuronal ceroid lipofuscinosis (NCL) or Batten disease?

Batten Disease is an autosomal recessive disorder – meaning a child inherits that is two copies of the defective gene, one from each parent.

Adult NCL may be inherited as an autosomal dominant disorder, where all people who inherit a single copy of the disease gene develops the disease.

How is neuronal ceroid lipofuscinosis (NCL) or Batten disease diagnosed?

Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam – but not that alone.

NCL is often diagnosed after clinical evaluation, detailed patient history, and identification of characteristic symptoms.  A diagnosis may be confirmed through:

• Blood or urine test
• Skin or tissue sampling
• EEG
• Electrical studies of the eyes
• Imaging tests
• Enzyme activity measuring

What are the treatments for neuronal ceroid lipofuscinosis (NCL) or Batten disease?

No specific treatment is known that reverses the symptoms of Batten disease.

Symptom treatments include:

• Anticonvulsant drugs for seizures
• FDA approved cerliponase alfa to slow loss of walking ability
• Physical and occupational therapy
• Vitamins C and E

A gene therapy program for is anticipated to enter clinical trials in 2017.

Where can I find out more about neuronal ceroid lipofuscinosis (NCL) or Batten disease?

• NIH
• Batten Disease Support and Research Association (BDSRA)
• Cleveland Clinic.Org