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

被引:0
作者
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
Christine Van Broeckhoven
机构
[1] Flanders Interuniversity Institute for Biotechnology,Neurodegenerative Brain Diseases Group, Department of Molecular Genetics
[2] Laboratory of Neurogenetics,Memory Clinic, Department of Neurology
[3] Laboratory of Neurochemistry and Behavior,Department of Pathology
[4] Laboratory of Neuropathology,Department of Neurology
[5] Institute Born-Bunge,Genetic Epidemiology Group, Department of Epidemiology and Biostatistics
[6] University of Antwerp,undefined
[7] Middelheim General Hospital,undefined
[8] Department of Neurology,undefined
[9] University Hospital Gasthuisberg,undefined
[10] Katholieke Universiteit Leuven (KULeuven),undefined
[11] Ghent University Hospital,undefined
[12] Ghent University,undefined
[13] Erasmus Medical Center Rotterdam,undefined
来源
Nature | 2006年 / 442卷
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摘要
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.
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页码:920 / 924
页数:4
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