What is Neuronal Ceroid Lipofuscinosis, PPT1-related? Neuronal ceroid lipofuscinosis (NCL), PPT1-related, is an inherited disease that causes brain degeneration, leading to a progressive loss of intellectual abilities and motor skills. The condition also causes blindness and seizures and typically leads to early death. Several genes are associated with NCL, and the symptoms may differ depending on the gene involved. NCL, PPT1-related, is caused by harmful genetic changes (variants) in the PPT1 gene. NCL, PPT1-related, typically results in either the infantile or juvenile form of NCL. Infantile Form The infantile form of NCL (INCL) usually begins to cause noticeable symptoms between 6 months and 24 months of age. Initially, infants may show developmental delays, jerking movements, and/or seizures. In addition, these infants will typically have small heads. Blindness and seizures generally develop by 24 months of age, after which cognitive functions will deteriorate. The child’s movement typically becomes spastic and uncontrolled, and they will experience a loss of motor skills and intellectual abilities. Juvenile Form The symptoms of juvenile NCL (JNCL), also called Batten disease, often begin between the ages of 4 and 10. The first noticeable symptom is a rapid loss of vision. Children with JNCL typically become completely blind within two years. Most develop periodic seizures, and cognitive functions decline. They often experience speech and behavioral problems in childhood. Psychiatric problems such as disturbed thoughts, attention difficulties, aggression, and dementia or memory problems often develop. Individuals with JNCL also show a decline in motor function and may have difficulty controlling body movements. How common is Neuronal Ceroid Lipofuscinosis, PPT1-related? The incidence of all forms of NCL is estimated to be 1 in 100,000 individuals. The exact incidence of NCL caused by harmful changes in the PPT1 gene is unknown. All forms of NCL diseases are most common in Scandinavian countries but occur elsewhere. Harmful changes in the PPT1 gene are most frequent among the Finnish population, where the prevalence of NCL is estimated to be 1 in 12,500. How is Neuronal Ceroid Lipofuscinosis, PPT1-related treated? There is no cure for NCL, PPT1-related. Treatment for the condition is based on the symptoms an individual has. Individuals with NCL, PPT1-related should work with a team of specialists including an ophthalmologist, neurologist, psychiatrist, and speech therapist to help treat symptoms. Medications manage many symptoms including seizures and psychiatric issues. Occupational and physical therapy may be helpful. In some individuals, a feeding tube can be used to ensure individuals are receiving adequate nutrition. What is the prognosis for an individual with Neuronal Ceroid Lipofuscinosis, PPT1-related? The prognosis for an individual with NCL depends on the disease subtype but is generally considered poor. Individuals with INCL or JNCL will become blind and experience deterioration of both motor skills and intellectual abilities. Eventually, they will be unable to do anything for themselves and will need others to care for them. Lifespan is also shortened for individuals with NCL, PPT1-related. For those with INCL, death usually occurs in childhood. For those with JNCL, death usually occurs in the late teens, twenties, or thirties. Other names forneuronal ceroid lipofuscinosis, PPT1-related Batten disease CLN1 Neuronal ceroid lipofuscinoses Neuronal ceroid lipofuscinosis 1 Santavuori-Haltia disease References Jalanko et al., 2009, Biochim Biophys Acta, 1793(4):697-709, PMID: 19084560 Johnson et al., 2019, Nat Rev Neurol., 15(3):161-178, PMID: 30783219 Kousi et al., 2012, Hum Mutat, 33(1):42-63, PMID: 21990111 Simonati et al., 2022, Front Neurol, 11:13:811686. doi: 10.3389/fneur.2022.811686, PMID: 35359645