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
关键词
D O I
暂无
中图分类号
学科分类号
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.
引用
收藏
页码:920 / 924
页数:4
相关论文
共 41 条
  • [21] Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three Dutch families
    Heutink, P
    Stevens, M
    Rizzu, P
    Bakker, E
    Kros, JM
    Tibben, A
    Niermeijer, MF
    vanDuijn, CM
    Oostra, BA
    vanSwieten, JC
    ANNALS OF NEUROLOGY, 1997, 41 (02) : 150 - 159
  • [22] Frontotemporal dementia with Parkinsonism linked to chromosome-17 mutations enhance tau oligomer formation
    Maeda, Sumihiro
    Sato, Yuhei
    Takashima, Akihiko
    NEUROBIOLOGY OF AGING, 2018, 69 : 26 - 32
  • [23] Microtubule associated protein tau in three Dutch families with frontotemporal dementia linked to chromosome 17q21-22
    van Swieten, JC
    Kamphorst, W
    Crowther, T
    Heutink, P
    Spillantini, MG
    ANNALS OF NEUROLOGY, 1998, 44 (03) : 496 - 496
  • [24] Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke family 1684
    Spillantini, MG
    Roses, AD
    Yamaoka, LH
    Gaskell, PC
    WelshBohmer, KA
    PericakVance, MA
    Hulette, CM
    BRAIN PATHOLOGY, 1997, 7 (04) : 1149 - 1149
  • [25] Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke family 1684
    Hulette, CM
    Pericak-Vance, MA
    Roses, AD
    Schmechel, DE
    Yamaoka, LH
    Gaskell, PC
    Welsh-Bohmer, KA
    Crowther, RA
    Spillantini, MG
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1999, 58 (08): : 859 - 866
  • [26] Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region
    Cruts, M
    Rademakers, R
    Gijselinck, I
    van der Zee, J
    Dermaut, B
    de Pooter, T
    de Rijk, P
    Del-Favero, J
    van Broeckhoven, C
    HUMAN MOLECULAR GENETICS, 2005, 14 (13) : 1753 - 1762
  • [27] Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22
    Savioz, A
    Riederer, BM
    Heutink, P
    Rizzu, P
    Tolnay, M
    Kövari, E
    Probst, A
    Riederer, IM
    Bouras, C
    Leuba, G
    NEUROBIOLOGY OF DISEASE, 2003, 12 (01) : 46 - 55
  • [28] Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22
    Baker, M
    Kwok, JBJ
    Kucera, S
    Crook, R
    Farrer, M
    Houlden, H
    Isaacs, A
    Lincoln, S
    Onstead, L
    Hardy, J
    Wittenberg, L
    Dodd, P
    Webb, S
    Hayward, N
    Tannenberg, T
    Andreadis, A
    Hallupp, M
    Schofield, P
    Dark, F
    Hutton, M
    ANNALS OF NEUROLOGY, 1997, 42 (05) : 794 - 798
  • [29] Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) -: Their relevance for understanding the neurogenerative process
    Goedert, M
    Ghetti, B
    Spillantini, MG
    MOLECULAR BASIS OF DEMENTIA, 2000, 920 : 74 - 83
  • [30] Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21
    Froelich, S
    Basun, H
    Forsell, C
    Lilius, L
    Axelman, K
    Andreadis, A
    Lannfelt, L
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1997, 74 (04): : 380 - 385