What is Neuronal Ceroid Lipofuscinosis, CLN6-related? Neuronal ceroid lipofuscinoses (NCL) is a group of inherited diseases that cause a loss of brain cells. This leads to progressive loss of mental and motor skills. There are several forms of NCL. The differences between the forms are due to the gene responsible and the age at which symptoms begin. NCL, CLN6-related, is caused by harmful genetic changes (variants) 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 two 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. 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, 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 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, and treatment is based on the symptoms an individual experiences. 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. Life expectancy for individuals with LINCL is 12 years of age. Individuals with adult-onset NCL generally pass away within 10 years of the onset of symptoms. Other names forneuronal ceroid lipofuscinosis, CLN6-related Batten disease CLN6 disease Kufs disease Neuronal ceroid lipofuscinosis 6 References Aungaroon et al., 2016, Pediatr Neurol, 60:42-48, PMID: 27238410 Badilla-Porras et al., 2022, Orphanet J Rare Dis., 10;17(1):13, PMID: 35012600 Kousi et al., 2011, Hum Mutat, 33(1):42-63, PMID: 21990111 Mole et al., 2019, Lancet Neurol, 18(1):107-116, PMID: 30470609 O'Neal et al., 2024, Pediatr Neurol., 154:51-57, PMID: 38531163