Juvenile Alpers disease

Archives of Neurology
Esko WiltshireDavid R Thorburn

Abstract

Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children. To report a juvenile case of Alpers disease due to mutations in the polymerase gamma gene (POLG1). Clinical, pathologic, biochemical, and molecular analysis. Tertiary care university hospital and academic institutions. A 17-year-old adolescent girl with intractable epilepsy and liver disease. Clinical course and pathologic, biochemical, and molecular features. Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis of POLG1 showed 2 novel mutations: T851A and R1047W. The POLG1 mutations can cause juvenile and childhood Alpers disease.

Citations

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