Neuronal ceroid lipofuscinoses (NCLS)

Alternative names 
Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs’ disease; Spielmeyer-Vogt

Definition

The neuronal ceroid lipofuscinoses (NCLS) are a group of rare, inherited neurodegenerative disorders. They associated with the accumulation of an abnormal pigment in the brain called lipofuscin. These disorders can be associated with severe diseases including blindness, mental retardation, and early death.

There are three main types, depending on the age it begins - late infantile (Jansky-Bielschowsky), juvenile (Batten disease), and adult (Kufs or Parry’s disease).

Causes, incidence, and risk factors

Lipofuscin is the generic name of an abnormal pigment that builds up in brain cells in this group of diseases. It is a consequence of, and marker for, the disease rather than the cause of the problem. The genetic bases of multiple types of this disease are now known, but evidence indicates that there are problems in the ability of brain cells to remove and recycle brain proteins.

The disorder may be evident at birth. More commonly it is diagnosed some time after the second year of life, in the teens, or as an adult. Children develop muscle incoordination (ataxia), walking abnormalities or disturbances, visual problems, retardation, and seizures. Later appearance of the disease is associated with somewhat less severe disability while early onset is typically associated with a shortened life span.

Lipofuscinoses are inherited as autosomal recessive traits. If both parents carry the trait, the statistical liklihood is that:

     
  • one of four children will have the disease.  
  • two of four children will be entirely normal but be carriers of the trait.  
  • one of four children will be entirely normal and not be a carrier.

Symptoms

     
  • blindness or visual disturbance  
  • ataxia, unsteady gait  
  • mental retardation with decreasing mental function  
  • dementia (deterioration of ability to think)  
  • seizures  
  • abnormal increased muscle tone or spasm (myoclonus)  
  • movement disorder (choreoathetosis)

Signs and tests

Tests include:

     
  • Tissue biopsy to demonstrate lipofuscin (aging pigment) storage  
  • White blood cells may contain vacuoles or lipofuscin (that is detected by autofluorescence)  
  • Electron microscopy of a skin biopsy may show abnormal inclusions in cells  
  • MRI or CT scans of the brain may show atrophy (shrinkage or small brain)  
  • EEG may show abnormal excitability of the brain and seizure  
  • Evoked visual potentials may be reduced or even absent  
  • Electroretinogram can reveal severe impairment of vision  
  • Genetic testing is available for multiple subtypes of this group of diseases

Treatment
Treatment depends on the specific symptoms and their extent. There may be a need for life-long assistance with care.

Support Groups

For information and support, see http://www.bdsra.org.

Expectations (prognosis)

     
  • progressive visual disturbance to blindness  
  • mental deterioration  
  • if the disease is apparent in the first year of life the child is unlikely to survive beyond 10 years of age  
  • adult onset disease may be milder and associated with no loss of vision and a normal life expectancy

Complications
There is typically visual impairment or blindness in early onset forms of the disease. Mental impairment can range from severe retardation at birth to only late onset dementia. There can be severe problems with the nerves that control muscle tone resulting in rigidity. The person may become totally dependent on others for help with daily activities.

Calling your health care provider
Call your health care provider if signs or symptoms of blindness or retardation are present in your child.

Prevention
Genetic counseling is indicated in families with a known history. A discussion of the risks and family planning can be useful. Prenatal or preimplantation genetic testing may be available depending on the specific subtype of disease.

Johns Hopkins patient information

Last revised: December 4, 2012
by Harutyun Medina, M.D.

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