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Neuronal ceroid lipofuscinoses (NCLS)
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:
Signs and tests
TreatmentTreatment depends on the specific symptoms and their extent. There may be a need for life-long assistance with care.
For information and support, see
ComplicationsThere 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 providerCall your health care provider if signs or symptoms of blindness or retardation are present in your child.
PreventionGenetic 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.
Update Date: 11/3/2003Celeste Krauss, M.D., Board Certified Clinical Genetics, Clinical Cytogenetics and Pediatrics. Founding Fellow, American College of Medical Genetics. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT