Mutations in progranulin explain atypical phenotypes with variants in MAPT

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 ubiquiti...

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Bibliographic Details
Published in:Brain (London, England : 1878) England : 1878), 2006-11, Vol.129 (11), p.3124-3126
Main Authors: Pickering-Brown, Stuart M., Baker, Matt, Gass, Jenny, Boeve, Bradley F., Loy, Clement T., Brooks, William S., Mackenzie, Ian R. A., Martins, Ralph N., Kwok, John B. J., Halliday, Glenda M., Kril, Jillian, Schofield, Peter R., Mann, David M. A., Hutton, Mike
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - genetics
Diseases of striated muscles. Neuromuscular diseases
frontotemporal dementia
FTLD-U
Humans
Intercellular Signaling Peptides and Proteins - genetics
MAPT
Medical sciences
Molecular Sequence Data
Mutation
Neurology
Phenotype
Progranulin
Progranulins
tau Proteins - genetics
Ubiquitin - metabolism
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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.
ISSN:0006-8950
1460-2156
DOI:10.1093/brain/awl289