This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (2)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Epilepsy  • Neurogenetics  • Pediatric Neurology  • Genetic Disorders  • Alert me on articles by topic  Social Bookmarking   What's this?

Esko Wiltshire, MD, FRACP; Guido Davidzon, MD; Salvatore DiMauro, MD; Hasan O. Akman, PhD; Lynette Sadleir, MD, FRACP; Lindsay Haas, MBChB, FRACP; Jane Zuccollo, MBBChBAO, FRCPA; Alison McEwen, BA, FHGSA; David R. Thorburn, PhD

Arch Neurol. 2008;65(1):121-124.

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

Objective  To report a juvenile case of Alpers disease due to mutations in the polymerase 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.

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).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
Stewart et al.
J. Med. Genet. 2009;46:209-214.
ABSTRACT | FULL TEXT