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).

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.

• 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)

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

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• 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