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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, Sebastiaan Engelborghs, Hans Wils, Daniel Pirici, Rosa Rademakers, Rik Vandenberghe, Bart Dermaut, Jean-Jacques Martin, Cornelia van Duijn, Karin Peeters, Raf Sciot, Patrick Santens, Tim De Pooter, Maria Mattheijssens, Marleen Van den Broeck, Ivy Cuijt, Krist'l Vennekens, Peter P. De Deyn, Samir Kumar-Singh and Christine Van Broeckhoven ()
Additional contact information
Marc Cruts: Flanders Interuniversity Institute for Biotechnology
Ilse Gijselinck: Flanders Interuniversity Institute for Biotechnology
Julie van der Zee: Flanders Interuniversity Institute for Biotechnology
Sebastiaan Engelborghs: Laboratory of Neurochemistry and Behavior
Hans Wils: Flanders Interuniversity Institute for Biotechnology
Daniel Pirici: Flanders Interuniversity Institute for Biotechnology
Rosa Rademakers: Flanders Interuniversity Institute for Biotechnology
Rik Vandenberghe: Department of Neurology
Bart Dermaut: Ghent University Hospital, Ghent University
Jean-Jacques Martin: Laboratory of Neuropathology, Institute Born-Bunge
Cornelia van Duijn: Erasmus Medical Center Rotterdam
Karin Peeters: Flanders Interuniversity Institute for Biotechnology
Raf Sciot: University Hospital Gasthuisberg, Katholieke Universiteit Leuven (KULeuven)
Patrick Santens: Ghent University Hospital, Ghent University
Tim De Pooter: Flanders Interuniversity Institute for Biotechnology
Maria Mattheijssens: Flanders Interuniversity Institute for Biotechnology
Marleen Van den Broeck: Flanders Interuniversity Institute for Biotechnology
Ivy Cuijt: Flanders Interuniversity Institute for Biotechnology
Krist'l Vennekens: Flanders Interuniversity Institute for Biotechnology
Peter P. De Deyn: Laboratory of Neurochemistry and Behavior
Samir Kumar-Singh: Flanders Interuniversity Institute for Biotechnology
Christine Van Broeckhoven: Flanders Interuniversity Institute for Biotechnology

Nature, 2006, vol. 442, issue 7105, 920-924

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.

Date: 2006
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DOI: 10.1038/nature05017

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