Concepedia

Characteristics of frontotemporal dementia patients with a <i>Progranulin</i> mutation

Edward D. Huey, Jordan Grafman, Eric M. Wassermann, Pietro Pietrini, Michael Tierney, Bernardino Ghetti, Salvatore Spina, Matt Baker, Mike Hutton, Joshua W. Elder,

Annals of Neurology · 2006 · 87 citations · 25 references

DOIFull text

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Abstract

Known PGRN and MAPT mutations were rare and of similar prevalence in our sample (2 compared with 1/84). The patients with the PGRN R493X mutation had a clinical presentation comparable with other behavior-predominant FTD patients. The neuropathology of an affected family member of a patient with the PGRN R493X mutation appears not to be Alzheimer's disease.

References

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Amyloid Oligomers Exacerbate Tau Pathology in a Mouse Model of Tauopathy

Maj-Linda B. Selenica, Milene L. Brownlow, Jeffy P. Jimenez et al. · Neurodegenerative Diseases · 2012 · 10.4K citations · Full text

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Mike Hutton, Corinne Lendon, Patrizia Rizzu et al. · Nature · 1998 · 3.5K citations

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

Matt Baker, Ian R. Mackenzie, Stuart Pickering‐Brown et al. · Nature · 2006 · 2.1K citations

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THE TOKEN TEST: A SENSITIVE TEST TO DETECT RECEPTIVE DISTURBANCES IN APHASICS

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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

Marc Cruts, Ilse Gijselinck, Julie van der Zee et al. · Nature · 2006 · 1.5K citations

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