Neuronal ceroid lipofuscinoses (NCLS)
Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt
Last reviewed: November 14, 2011.
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)
Causes, incidence, and risk factors
NCLS involves the buildup of an abnormal material called lipofuscin in the brain. NCLS is thought to be caused by problems with the brain's ability to remove and recycle proteins.
Lipofuscinoses are inherited as autosomal recessive traits.
Symptoms
Abnormally increased muscle tone or spasm (myoclonus)
Blindness or vision problems
Dementia
Lack of muscle coordination
Mental retardation with decreasing mental function
Movement disorder (choreoathetosis)
Seizures
Unsteady walk (ataxia)
Signs and tests
The disorder may be seen at birth, but it is usually diagnosed much later.
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.
Expectations (prognosis)
The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness, and problems with mental function that get worse. If the disease starts in the first year of life, death by age 10 is likely.
If the disease occurs in adulthood, symptoms will be milder with no vision loss and a normal life expectancy.
Complications
Vision impairment or blindness (with the early-onset forms of the disease)
Mental impairment, ranging from severe developmental delays at birth to dementia later in life
Rigid muscles (due to severe problems with the nerves that control muscle tone)
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.
