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January 2008

Juvenile Alpers Disease

Author Affiliations

Author Affiliations: Departments of Pediatrics and Child Health (Drs Wiltshire and Sadleir) and Pathology (Dr Zuccollo), Wellington School of Medicine and Health Sciences, University of Otago, and Central Regional Genetics Service (Dr Wiltshire and Ms McEwen) and Department of Neurology (Ms Haas), Capital and Coast District Health Board, Wellington, New Zealand; Department of Neurology, Columbia University Medical Center, New York, New York (Drs Davidzon, DiMauro, and Akman); and Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, and Department of Paediatrics, University of Melbourne, Melbourne, Australia (Dr Thorburn).

Arch Neurol. 2008;65(1):121-124. doi:10.1001/archneurol.2007.14

Background  Alpers disease is commonly associated with polymerase γ deficiency and usually affects infants or young children.

Objective  To report a juvenile case of Alpers disease due to mutations in the polymerase γ gene (POLG1).

Design  Clinical, pathologic, biochemical, and molecular analysis.

Setting  Tertiary care university hospital and academic institutions.

Patient  A 17-year-old adolescent girl with intractable epilepsy and liver disease.

Main Outcome Measures  Clinical course and pathologic, biochemical, and molecular features.

Results  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.

Conclusion  The POLG1 mutations can cause juvenile and childhood Alpers disease.