Lipofuscin is the generic name of an abnormal pigment which 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 even an adult. Children develop muscleincoordination (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 likelihood that their children will be affected is:
- 25% -- one of four children will have the disease.
- 50% -- two of four children will be entirely normal but be carriers of the trait.
- 25% -- one of four children will be entirely normal and not be a carrier.
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