Article
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.
Nature - 24 Aug 2006
Cruts Marc, Gijselinck Ilse, van der Zee Julie, Engelborghs Sebastiaan, Wils Hans, Pirici Daniel, Rademakers Rosa, Vandenberghe Rik, Dermaut Bart, Martin Jean-Jacques, van Duijn Cornelia, Peeters Karin, Sciot Raf, Santens Patrick, De Pooter Tim, Mattheijssens Maria, Van den Broeck Marleen, Cuijt Ivy, Vennekens Krist'l, De Deyn Peter P, Kumar-Singh Samir, Van Broeckhoven Christine
Abstract excerpt
Frontotemporal dementia (FTD) with ubiquitin-immunoreactive neuronal inclusions (both cytoplasmic and nuclear) of unknown nature has been linked to a chromosome 17q21 region (FTDU-17) containing MAPT (microtubule-associated protein tau). FTDU-17 patients have consistently been shown to lack a tau-immunoreactive pathology, a feature characteristic of FTD with parkinsonism linked to mutations in MAPT (FTDP-17)....
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