CLN6-related neuronal ceroid lipofuscinosis
What is CLN6-related Neuronal Ceroid Lipofuscinosis?
CLN6-related neuronal ceroid lipofuscinosis (NCL6) is an inherited disease that causes degeneration of the brain, leading to a progressive loss of mental and motor skills.
There are several forms of NCL, largely differentiated by the gene responsible and the age at which symptoms begin. Mutations in the CLN6 gene typically result in variant late-infantile neuronal ceroid-lipofuscinosis (vLINCL) or rarely, adult-onset NCL (Kufs disease type A).
Variant late-infantile neuronal ceroid-lipofuscinosis The symptoms of vLINCL typically begin between 3 and 8 years of age. Early symptoms often include seizures, vision loss and difficulty controlling movements. Other symptoms include jerking movements, mental decline, and speech problems. In general, most children with vLINCL will lose all motor skills and vision by 4-10 years of age. Death occurs around 20 years of age.
Adult-onset NCL The symptoms of adult-onset NCL typically begin around the age of 30 but range between 16-51 years. Individuals experience difficulty controling seizures, dementia and have difficulty balancing and controlling movements. Death usually occurs 10 years after the onset of symptoms. Vision is not affected in adult-onset NCL.
How common is CLN6-related Neuronal Ceroid Lipofuscinosis?
Approximately 1 in 25,000 people globally are affected by some form of NCL. The exact incidence and prevalence of CLN6-related neuronal ceroid lipofuscinosis is unknown.
How is CLN6-related Neuronal Ceroid Lipofuscinosis treated?
There is no cure for CLN6-related neuronal ceroid lipofuscinosis. Symptoms such as seizures and poor muscle tone can be treated as they arise with various medications. Some individuals may benefit from a feeding tube.
What is the prognosis for a person with CLN6-related Neuronal Ceroid Lipofuscinosis?
The prognosis for people with the disease is poor. Individuals with variant late-infantile neuronal ceroid-lipofuscinosis generally lose their vision and all motor skills by 4 to 10 years of age. Lifespan is around 20 years of age. Individuals with adult-onset NCL generally pass within 10 years of the onset of symptoms.