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R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family

Authors

  • F. Sina,

    1. Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran
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  • S. Shojaee,

    1. Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran
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  • E. Elahi,

    1. Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran
    2. School of Biology, College of Science, University of Tehran, Tehran, Iran
    3. Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science, College of Science, University of Tehran, Tehran, Iran
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  • C. Paisán-Ruiz

    1. Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London, UK
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Coro Paisán-Ruiz, Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK (tel.: +44-(0)-207-837-3611 (Ext 4015); fax: +44-(0)-207-833-1016; e-mail: c.paisan-ruiz@ion.ucl.ac.uk).

Abstract

Background: PLA2G6 mutations are known to be responsible for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA). In addition, novel mutations in PLA2G6 have recently been associated with dystonia-parkinsonism in two unrelated consanguineous families.

Methods:  Direct sequencing analysis of the PLA2G6 gene.

Results:  Here, we report the segregation of R632W with disease in an Iranian consanguineous dystonia-parkinsonism pedigree. The identical mutation was previously observed in a patient affected with NBIA.

Conclusion:  We conclude that different and even identical PLA2G6 mutations may cause neurodegenerative diseases with heterogeneous clinical manifestations, including INAD, NBIA and dystonia-parkinsonism.

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