Health Encyclopedia

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, incidence, and risk factors

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)

Signs 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.

Expectations (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.

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.

Calling your health care provider

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.

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.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.