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Diseases

neuronal ceroid lipofuscinosis, CLN6-related

What is Neuronal Ceroid Lipofuscinosis, CLN6-related?

Neuronal ceroid lipofuscinoses (NCL), also called Batten disease, are a group of inherited diseases that cause degeneration of the brain, leading to 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. NCL, CLN6-related, is caused by harmful genetic changes (mutations) in the CLN6 gene, and it typically results in late-infantile NCL (LINCL) or adult-onset NCL.

Late-Infantile Neuronal Ceroid-Lipofuscinosis

The symptoms of LINCL commonly begin between three and eight 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 LINCL will lose all motor skills and vision by 4 to 10 years of age.

Adult-Onset Neuronal Ceroid-Lipofuscinosis

The symptoms of adult-onset NCL typically begin around the age of 30 but can appear anywhere between the second and sixth decades of life. Individuals experience worsening (progressive) seizures, have dementia, and have difficulty balancing and controlling movements. Vision is not affected in adult-onset NCL.

How common is Neuronal Ceroid Lipofuscinosis, CLN6-related?

The incidence of all forms of NCL is approximately 1 in 75,000 to 1 in 100,000 births. The exact incidence of NCL caused by CLN6 mutations is unknown but is more common among individuals of Portuguese and Costa Rican descent.

How is Neuronal Ceroid Lipofuscinosis, CLN6-related treated?

There is no cure for NCL, CLN6-related disorders, and treatment is based on the symptoms that are present. Treatment typically includes medications to control seizures and movement problems. Affected individuals should be routinely monitored for swallowing difficulties to determine if a feeding tube would be beneficial.

What is the prognosis for an individual with Neuronal Ceroid Lipofuscinosis, CLN6-related?

The prognosis for individuals with NCL, CLN6-related disorders is poor. Individuals with LINCL generally lose their vision and all motor skills by 4 to 10 years of age. Lifespans are around 20 years of age. Individuals with adult-onset NCL generally pass away within 10 years of the onset of symptoms.