Neuronal ceroid lipofuscinoses (NCLS)
Key points
- The neuronal ceroid lipofuscinoses (NCLS) are a group of rare, inherited neurodegenerative disorders.
- Lipofuscin is the generic name of an abnormal pigment that builds up in brain cells in this group of diseases.
- Treatment Treatment depends on the specific symptoms and their extent.
- Complications There is typically visual impairment or blindness in early onset forms of the disease.
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
Written and revised by
David Cohen, M.D.
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