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Oxford University Press (OUP), Brain, 11(129), p. 3124-3126

DOI: 10.1093/brain/awl289

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Mutations in progranulin explain atypical phenotypes with variants in MAPT

Journal article published in 2006 by Stuart M. Pickering Brown, Matt Baker, Jenny Gass, Bradley F. Boeve, Clement T. Loy, William Seymour Brooks ORCID, Ian R. A. Mackenzie, Ralph N. Martins ORCID, John B. J. Kwok, Glenda M. Halliday ORCID, Jillian Kril, Peter R. Schofield, David M. A. Mann, Mike Hutton, S Baker M Gass J Boeve BF Loy CT Brooks WS Mackenzie IR Martins RN Kwok JB Halliday GM Kril JJ Shofield PR Mann DMA Hutton M. Pickering-Brown
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.