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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)
Lipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-Vogt
Causes, incidence, and risk factorsNCLS is a type of neurodegenerative disorder. It involves the buildup 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.
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
- 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 gait (ataxia)
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 depends on the type and extent of symptoms. You may need lifelong assistance and care.
Support GroupsFor information and support, see www.bdsra.org.
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 emerges 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 retardation 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 providerCall your health care provider if your child shows symptoms of blindness or retardation.
PreventionGenetic 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.
What else can I help you with?
How many ncls championships has the San Francisco has won?
4
How is batten disease inherited?
Batten disease is a group of disorders known as neuronal ceroid lipofuscinoses or NCLs. Over 400 different errors (mutations) in 14 different segments of DNA (genes) can lead to one of 14 forms of Batten disease. Symptoms associated with the disease are very similar. Each form differs primarily by when symptoms appear. Children with unhealthy CLN1 genes develop infantile Batten around 1 year old. Children with unhealthy CLN2 genes show symptoms at age 4. Children with unhealthy CLN3 genes show symptoms at age 6, etc. We each have 2 copies of every gene, one from each parent. To inherit one of the childhood forms of Batten, we need to receive the unhealthy gene from both parents so that we have 2 copies but neither works. Our parents are OK because they each have 1 healthy copy (that does all of the work) and an unhealthy copy. Every child of two parents who "carry" bad genes, has a 25% chance of developing Batten. Each form affects the nervous system resulting in blindness (except adults), seizures, movement disorders, altered thought (psychoses), cognitive decline and early death.
What are the demographics of Bataten disease?
Batten disease is relatively rare, occurring in two to four of every 100,000 births in the United States. NCLs appear to be more common in children living in Northern Europe and Newfoundland, Canada.
What is the treatment for Batten disease?
There is no known treatment to prevent or reverse the symptoms of Batten disease or other NCLs. Anticonvulsant drugs are often prescribed to reduce or control seizures. Other medicines may be prescribed to manage other symptoms.
In contemporary Australia do individuals have little time for their Christian religion?
Modern Australia is a largely secular State, although many Australians still consider themselves religious. Take a look here for a report on Church attendance in Australia authored by NCLS Research Australia. Please note the information at the Related Links to the right as well.
Is a Uniting Church part of the Catholic Religion?
No, the Uniting Church is not a Roman Catholic Church. It is a union of three different protestant ecclesial communities, the Methodist Church of Australasia, the Presbyterian Church of Australia and the Congregational Union of Australia.
Who won the 1980 World Series?
The Los Angeles Dodgers defeated the Oakland Athletics 4 games to 1. Click on the '1988 World Series' link on this page to see a game by game breakdown. The 1988 World Series was between the Los Angeles Dodgers and the Oakland Athletics. The Dodgers were the surprise winners, 4 games to 1. Orel Hershisher was the World Series MVP, who was also the NCLS MVP and the Nationa League's Cy Young Winner that year. Oakland's only win was game 3 and was won in dramatic fashion when Mark McGwire hit a homer in the bottom of the ninth.The Los Angeles Dodgers beat the Oakland Athletics in the 1988 World Series.
