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Neuronal ceroid lipofuscinoses (NCLS)

Definition

Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells.

There are three main types of NCLS:

• Adult (Kufs' or Parry's disease)
• Juvenile (Batten disease)
• Late infantile (Jansky-Bielschowsky)

Alternative Names

Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt

Causes

NCLS is a type of neurodegenerative disorder. It involves a build-up of an abnormal material called lipofuscin in the brain. Evidence suggests that NCLS is caused by problems with the brain's ability to remove and recycle proteins.

The disorder may be seen at birth, but it is usually diagnosed much later. Children develop lack of muscle coordination (ataxia), walking problems, sight problems, retardation, and seizures. The younger the person is when the disease appears, the greater the risk for disability and early death.

Lipofuscinoses are inherited as autosomal recessive traits. That means if both parents carry the trait, each child has:

• A 1 in 4 chance of having the disease
• A 2 in 4 chance of not having the disease but carrying the trait
• A 1 in 4 chance of not having the disease and not being a carrier

Symptoms

• Abnormally increased muscle tone or spasm (myoclonus)
• Blindness or visual disturbance
• Dementia
• Mental retardation with decreasing mental function
• Movement disorder (choreoathetosis)
• Seizures
• Unsteady gait (ataxia)

Exams and Tests

Tests include:

• Autofluorescence (a light technique)
• EEG
• Electron microscopy of a skin biopsy
• Electroretinogram
• Genetic testing
• MRI or CT scans of the brain
• Tissue biopsy

Treatment

Treatment depends on the type and extent of symptoms. You may need lifelong assistance and care.

Support Groups

For information and support, see www.bdsra.org.

Outlook (Prognosis)

If the disease occurs in adulthood, symptoms will be milder with no vision loss and a normal life expectancy. Those who develop the disease early can have vision problems that progress to blindness, and mental deterioration. If the disease emerges in the first year of life, death is likely by age 10.

Possible Complications

People with the early-onset forms of the disease typically have visual impairment or blindness. Mental impairment can range from severe retardation at birth to late-onset dementia. There can be severe problems with the nerves that control muscle tone, making the muscles rigid. The person may become totally dependent on others for help with daily activities.

When to Contact a Medical Professional

Call your health care provider if your child shows symptoms of blindness or retardation.

Prevention

Genetic counseling is recommended if your family has a known history of NCLS. Prenatal or preimplantation genetic testing may be available depending on the specific type of disease.

See also: Drugs associated with Cerebral Sphingolipidosis

Review Date: 10/25/2007
Reviewed By: Chad Haldeman-Englert, M.D., Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.