Neuronal Ceroid Lipofuscinoses (NCL)

The neuronal ceroid lipofuscinoses (NCLs) are a group of rare and fatal diseases of the nervous system that typically begin in childhood. NCLs are inherited conditions that mostly affect the function of the brain. Some types of NCL are referred to as Batten disease.

Frequently Asked Questions about Neuronal Ceroid Lipofuscinoses (NCL)

What causes the neuronal ceroid lipofuscinoses?

NCLs are an inherited neurodegenerative disease. 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. Many different errors (mutations) in 13 separate segments of DNA (genes) have been attributed to the NCLs, which differ from one another primarily by the age and symptoms that appear first. These disorders all affect the nervous system with increasing seizures, movement disorders, altered thought processes, and cognitive decline. Many NCLs also cause progressive loss of vision.

What’s the difference between Batten disease and neuronal ceroid lipofuscinoses?

The naming system for NCLs can be a little confusing: There are currently 14 known types, referred to as CLN1 through CLN14, according to the genetics of the diseases. “Batten disease,” another name for CLN type 3 or juvenile onset neuronal ceroid lipofuscinosis, has also been used to describe all the NCL diseases. In addition, some NCLs are also named after the doctors that first described the disorder. Dr. Frederick Batten was the first doctor who reported the findings in patients with CLN type 3. Learn more about treating CLN2 Batten disease at CHOC.

What are the symptoms of Neuronal Ceroid Lipofuscinoses?

  • Symptoms can be different in each child during the progression of their disease. They can include:
  • Seizures (Epilepsy)
  • Speech delays
  • Ataxia (Unsteady walking)
  • Loss of motor skills and the ability to walk, talk and communicate
  • Cognitive decline
  • Visual impairment/blindness
  • Myoclonus (A type of jerking movement of the muscles)
  • Dementia
  • Personality and behavior changes
  • Psychiatric symptoms (i.e. aggression)
  • Extrapyramidal symptoms (i.e. spasms, restlessness, rigidity, tremors, jerky movements)

How are Neuronal Ceroid Lipofuscinoses diagnosed?

NCLs 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 are Neuronal Ceroid Lipofuscinoses treated?

In April 2017, the FDA approved Brineura™ as a specific treatment for late infantile onset neuronal ceroid lipofuscinosis (CLN2) disease. Years of clinical studies of CLN2 patients treated with Brineura™ found that treatment slowed, or even stopped, the rate that walking and speech were lost. Learn more about treating CLN2 Batten disease at CHOC. Currently, there are no other specific treatments known to halt or reverse the symptoms of any other types of neuronal ceroid lipofuscinosis. For all forms of NCLs, seizures can be reduced or controlled with antiepileptic 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. Gastrostomy tube placement may be required if patients lose enough eating ability that they can no longer maintain their weight.