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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

Author

Listed:
  • Matt Baker

    (Mayo Clinic College of Medicine)

  • Ian R. Mackenzie

    (Department of Pathology)

  • Stuart M. Pickering-Brown

    (University of Manchester
    University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital)

  • Jennifer Gass

    (Mayo Clinic College of Medicine)

  • Rosa Rademakers

    (Mayo Clinic College of Medicine)

  • Caroline Lindholm

    (Division of Neurology)

  • Julie Snowden

    (University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital)

  • Jennifer Adamson

    (Mayo Clinic College of Medicine)

  • A. Dessa Sadovnick

    (Division of Neurology
    Department of Medical Genetics, University of British Columbia)

  • Sara Rollinson

    (University of Manchester)

  • Ashley Cannon

    (Mayo Clinic College of Medicine)

  • Emily Dwosh

    (Department of Medical Genetics, University of British Columbia)

  • David Neary

    (University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital)

  • Stacey Melquist

    (Mayo Clinic College of Medicine)

  • Anna Richardson

    (University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital)

  • Dennis Dickson

    (Mayo Clinic College of Medicine)

  • Zdenek Berger

    (Mayo Clinic College of Medicine)

  • Jason Eriksen

    (Mayo Clinic College of Medicine)

  • Todd Robinson

    (Mayo Clinic College of Medicine)

  • Cynthia Zehr

    (Mayo Clinic College of Medicine)

  • Chad A. Dickey

    (Mayo Clinic College of Medicine)

  • Richard Crook

    (Mayo Clinic College of Medicine)

  • Eileen McGowan

    (Mayo Clinic College of Medicine)

  • David Mann

    (University of Manchester, Greater Manchester Neurosciences Centre, Hope Hospital)

  • Bradley Boeve

    (Mayo Clinic College of Medicine)

  • Howard Feldman

    (Division of Neurology)

  • Mike Hutton

    (Mayo Clinic College of Medicine)

Abstract

Dementia-causing mutation Two groups of neuroscientists have discovered that a mutation in the progranulin gene, which encodes a growth factor, can cause frontotemporal dementia (FTD). The condition, the second most common form of dementia among under-65s, impairs memory and personality and may also affect movement. The discovery may help to resolve confusion over the cause of the disease — mutations in a neighbouring gene called microtubule-associated protein tau were shown previously to be associated with some, but not all, cases of FTD.

Suggested Citation

  • Matt Baker & Ian R. Mackenzie & Stuart M. Pickering-Brown & Jennifer Gass & Rosa Rademakers & Caroline Lindholm & Julie Snowden & Jennifer Adamson & A. Dessa Sadovnick & Sara Rollinson & Ashley Cannon, 2006. "Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17," Nature, Nature, vol. 442(7105), pages 916-919, August.
    • Handle: RePEc:nat:nature:v:442:y:2006:i:7105:d:10.1038_nature05016
    DOI: 10.1038/nature05016
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    Citations

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    Cited by:

    1. Hideyuki Takahashi & Sanaea Bhagwagar & Sarah H. Nies & Hongping Ye & Xianlin Han & Marius T. Chiasseu & Guilin Wang & Ian R. Mackenzie & Stephen M. Strittmatter, 2024. "Reduced progranulin increases tau and α-synuclein inclusions and alters mouse tauopathy phenotypes via glucocerebrosidase," Nature Communications, Nature, vol. 15(1), pages 1-23, December.
    2. Sebastian Boland & Sharan Swarup & Yohannes A. Ambaw & Pedro C. Malia & Ruth C. Richards & Alexander W. Fischer & Shubham Singh & Geetika Aggarwal & Salvatore Spina & Alissa L. Nana & Lea T. Grinberg , 2022. "Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis," Nature Communications, Nature, vol. 13(1), pages 1-13, December.
    3. Daniel J. Lodge & Hannah B. Elam & Angela M. Boley & Jennifer J. Donegan, 2023. "Discrete hippocampal projections are differentially regulated by parvalbumin and somatostatin interneurons," Nature Communications, Nature, vol. 14(1), pages 1-12, December.
    4. Yachao He & Ibrahim Kaya & Reza Shariatgorji & Johan Lundkvist & Lars U. Wahlberg & Anna Nilsson & Dejan Mamula & Jan Kehr & Justyna Zareba-Paslawska & Henrik Biverstål & Karima Chergui & Xiaoqun Zhan, 2023. "Prosaposin maintains lipid homeostasis in dopamine neurons and counteracts experimental parkinsonism in rodents," Nature Communications, Nature, vol. 14(1), pages 1-22, December.

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