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POLG mutations and Alpers syndrome

Authors

  • Guido Davidzon MD,

    1. Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY
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  • Michelangelo Mancuso MD,

    1. Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY
    2. Department of Neurosciences, Neurological Institute, University of Pisa, Pisa, Italy
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  • Silvio Ferraris MD,

    1. Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY
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  • Catarina Quinzii MD,

    1. Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY
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  • Michio Hirano MD,

    1. Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY
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  • Heidi L. Peters MD,

    1. Murdoch Childrens Research Institute and Genetic Health Services, Victoria Royal Children's Hospital Department of Paediatrics, University of Melbourne, Melbourne, Australia
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  • Denise Kirby PhD,

    1. Murdoch Childrens Research Institute and Genetic Health Services, Victoria Royal Children's Hospital Department of Paediatrics, University of Melbourne, Melbourne, Australia
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  • David R. Thorburn PhD,

    1. Murdoch Childrens Research Institute and Genetic Health Services, Victoria Royal Children's Hospital Department of Paediatrics, University of Melbourne, Melbourne, Australia
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  • Salvatore DiMauro MD

    Corresponding author
    1. Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY
    • 4-420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032
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Abstract

Alpers–Huttenlocher syndrome (AHS) an autosomal recessive hepatocerebral syndrome of early onset, has been associated with mitochondrial DNA (mtDNA) depletion and mutations in polymerase gamma gene (POLG). We have identified POLG mutations in four patients with hepatocerebral syndrome and mtDNA depletion in liver, who fulfilled criteria for AHS. All were compound heterozygous for the G848S and W748S mutations, previously reported in patients with progressive external ophtalmoplegia or ataxia. We conclude that AHS should be included in the clinical spectrum of mtDNA depletion and is often associated with POLG mutations, which can cause either multiple mtDNA deletions or mtDNA depletion. Ann Neurol 2005;57:921–924

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