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Juvenile neuronal ceroid lipofuscinosis (JNCL) is a recessively inherited, progressive neurologic disease caused by mutations in the CLN3 gene, coding for a transmembrane protein with unknown function.1 The symptoms include visual failure, noticed around the age of 4 to 7 years, mental decline, epilepsy, parkinsonism, psychiatric symptoms, and sleeping difficulties. Thus far, no curative treatment is available and the disease leads to an early death at the age of 15 to 30 years.
Autoantibodies to glutamic acid decarboxylase 65 (GAD65) were detected in the sera of patients with JNCL and in CLN3 knock-out mice.2 As a biologic sign of these antibodies, decreased GAD65 activity and increased levels of glutamate were observed in the mice brains. Together these findings suggest that an immune-mediated reaction to GAD65 may be involved in the pathogenesis of JNCL.
Our aim was to test the effect of immunosuppressive therapy on the GAD65-antibodies, symptoms, and disease progression in patients with JNCL.
Methods.
Four girls and four boys with JNCL (table) were included in this 1-year study, approved by the Ethics Committee of the Hospital for Children and Adolescents, University of Helsinki.
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Table Patients, their GAD65-autoantibodies, verbal IQ, and weight for height ratio in percentage at the beginning (0 mo) and end …
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