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Aurora magazine

Juvenile neuronal ceroidolipofuscinosis: what they are

Batten's disease is part of juvenile neuronal ceroidolipofuscinoses, which in turn form part of ceroidolipofuscinosis. It is a group of very heterogeneous diseases from the genetic point of view, which occur in school age. They are prevalent in the Scandinavian countries and only in Finland the incidence is 1 in every 21,000 births. In the United States, on the other hand, about 2-4 cases are estimated for every 100,000 newborns.

Batten's disease is the most common form of juvenile neuronal ceroidolipofuscinosis. It occurs around 6 years with a progressive deterioration of vision. For the rest, the child seems healthy. Blindness occurs within a few years, followed by cognitive decline and early symptoms of epilepsy. With time appear dementia and increasingly serious motor disorders, in some cases accompanied by aggressive behavior.

Juvenile neuronal ceroidolipofuscinoses are transmitted in an autosomal recessive manner. In the case of CLN9, the phenotype is known - identical to the Batten disease - but not the gene that causes it. Diagnosis is made by enzymatic testing and clinical observation, including the infiltrated lymphocytes of vacuoles. Molecular testing is used to confirm the diagnosis.

Unfortunately, for the moment there are only symptomatic treatments and lack of resolving therapies. There are palliative treatments that involve the administration of anticonvulsant drugs, but also psychiatric and psychological interventions. Life expectancy is variable, depending on the type of illness. In the case of the Batten disease, it is around 30 years old.