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Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

Authors

  • Rita Joao Guerreiro MS,

    Corresponding author
    1. Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland, USA
    2. Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
    • Laboratory of Neurogenetics, National Institute on Aging, NIH, Room 1A-1010 Porter Neuroscience Center, 35 Convent Rd., Bethesda Maryland 20852
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  • Isabel Santana MD, PhD,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
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  • Jose Miguel Bras MS,

    1. Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland, USA
    2. Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
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  • Tamas Revesz FRCPath,

    1. Department of Molecular Neuroscience, Queen Square Brain Bank, Institute of Neurology, UCL, Queen Square, London, England
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  • Olinda Rebelo MD,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
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  • Maria Helena Ribeiro BS,

    1. Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
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  • Beatriz Santiago MD,

    1. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
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  • Catarina Resende Oliveira MD, PhD,

    1. Center for Neurosciences and Cell Biology, University of Coimbra, Coimbra, Portugal
    2. Neurology Service, Coimbra University Hospital, Coimbra, Portugal
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  • Andrew Singleton PhD,

    1. Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland, USA
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  • John Hardy PhD

    1. Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland, USA
    2. Department of Molecular Neuroscience, Queen Square Brain Bank, Institute of Neurology, UCL, Queen Square, London, England
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Abstract

Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD) in many families. Different frequencies of these genetic changes have been reported in diverse populations leading us to determine if these mutations were a major cause of FTD in the Portuguese population. The entire coding sequence plus exon 0 of PGRN were sequenced in a consecutive series of 46 FTD/CBS Portuguese patients. Two mutations were found: a novel pathogenic insertion (p.Gln300GlnfsX61) and a previously described point variant (p.T182M) of unclear pathogenicity. Pathogenic mutations in the PGRN gene were found in one of the 36 probands studied (3% of the probands in our series) who had a corticobasal syndrome presentation, indicating that in the Portuguese population, mutations in this gene are not a major cause of FTD. © 2008 Movement Disorder Society

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