CLN5-related neuronal ceroid lipofusciosis (NCL) is an inherited disease that causes degeneration of the brain leading to a progressive loss of mental and motor skills. It causes blindness and leads to an early death.
Mutations in the CLN5 gene cause a form of NCL that is often referred to as the Finnish variant of late-infantile neuronal ceroid lipofuscinosis (fLINCL).
Symptoms usually begin between the ages of 4 and 7. By the age of 10, children typically have lost their vision and develop seizures, mental disability, muscle twitching, and an inability to control muscle movements (ataxia). Between the ages of 8 and 11, they lose the ability to walk independently. They will gradually lose their ability to speak and move and will become profoundly mentally disabled.
CLN5-related NCL is most common in an area of western Finland known as Southern Ostrobothnia. There, 1 in 24 to 44 is a carrier of the disease. In other parts of Finland, studies have found that 1 in 385 are carriers in Eastern Finland and 1 in 1000 in the capital of Helsinki. To date, 29 cases of CLN5-related NCL have been diagnosed in Finland, one in Sweden, and one in the Netherlands.
There is no treatment for the underlying cause of CLN5-related NCL. Treatments, such as anti-seizure medication, can only address the symptoms as they arise.
The prognosis for people with the disease is poor. They will be profoundly mentally disabled and unable to speak or move some time after the age of 10. The average life expectancy is about 20 years, though the lifespan of people with the disease has ranged from 14 to 39 years.
A dissertation on the disease written by a Ph.D. candidate at the Helsinki Biomedical Graduate School.
A medical database of genetic disorders funded by the National Institutes of Health and developed at the University of Washington, Seattle. Much of the language in GeneReviews is meant for physicians and other scientists. This webpage also discusses numerous forms of neuronal ceroid lipofuscinosis. Direct your attention to CLN5.
An organization that supports individuals and their families living with lysosomal disease. It also helps find treatment for and supports research on various forms of lysosomal disease.
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