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Brain 2006 129(11):3124-3126; doi:10.1093/brain/awl289
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© The Author (2006). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Mutations in progranulin explain atypical phenotypes with variants in MAPT

Stuart M. Pickering-Brown1,2, Matt Baker3, Jenny Gass3, Bradley F. Boeve4, Clement T. Loy5,6, William S. Brooks6,7, Ian R. A. Mackenzie8, Ralph N. Martins7, John B. J. Kwok5,7, Glenda M. Halliday6,7, Jillian Kril9, Peter R. Schofield5,6,7, David M. A. Mann2 and Mike Hutton3

1 Division of Regenerative Medicine, University of Manchester, Manchester UK 2 Clinical Neuroscience Research Group, Division of Medicine and Neuroscience Greater Manchester Neurosciences Centre, University of Manchester, Hope Hospital, Salford, UK 3 Department of Neuroscience, Mayo Clinic Jacksonville Jacksonville, FL 4 Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA 5 Garvan Institute of Medical Research Darlinghurst, NSW 2010 Australia 6 Prince of Wales Medical Research Institute Barker Street, Randwick, Sydney 2031, Australia 7 The University of New South Wales Sydney 2052, Australia 8 Department of Pathology and Laboratory Medicine University of British Columbia and Vancouver Coastal Health Vancouver, British Columbia, Canada 9 Disciplines of Medicine and Pathology, University of Sydney Sydney, Australia

Correspondence to: Stuart M. Pickering-Brown, Division of Regenerative Medicine, University of Manchester, Stopford Building, Oxford Road, Manchester; M13 9PT, UK E-mail: SPB{at}Manchester.ac.uk

Summary

Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17.

Key Words: frontotemporal dementia; FTLD-U; MAPT; Progranulin

Abbreviations: FTLD, frontotemporal lobar degeneration; NCI, neuronal cytoplasmic inclusions; NII, neuronal intranuclear inclusions; PGRN, progranulin; PSEN1, presenilin-1; ub-ir, ubiquitin-immunoreactive

Received September 4, 2006. Accepted September 13, 2006.


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