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
[31]   Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations [J].
Goedert, M ;
Satumtira, S ;
Jakes, R ;
Smith, MJ ;
Kamibayashi, C ;
White, CL ;
Sontag, E .
JOURNAL OF NEUROCHEMISTRY, 2000, 75 (05) :2155-2162
[32]   Brain tau and neurofilament proteins in a Swiss family with frontotemporal dementia unlinked to chromosome 17q21-22 [J].
Leuba, G ;
Riederer, M ;
Riederer, IM ;
Heutink, P ;
Tolnay, M ;
Probst, A ;
Kövari, E ;
Bouras, C ;
Savioz, A .
NEUROBIOLOGY OF AGING, 2002, 23 (01) :S58-S58
[33]   Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17 [J].
Jiang, ZH ;
Cote, J ;
Kwon, JM ;
Goate, AM ;
Wu, JY .
MOLECULAR AND CELLULAR BIOLOGY, 2000, 20 (11) :4036-4048
[34]   Functional characterization of frontotemporal dementia with parkinsonism linked to chromosome 17 tau gene mutations through their effects on xenopus oocyte maturation [J].
Delobel, P ;
Hamdane, M ;
Delacourte, A ;
Buee, L .
NEUROBIOLOGY OF AGING, 2002, 23 (01) :S413-S413
[35]   Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17 [J].
Isaacs, A ;
Baker, M ;
Hutton, M .
GENOMICS, 1998, 51 (01) :152-154
[36]   Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17 [J].
Varani, L ;
Hasegawa, M ;
Spillantini, MG ;
Smith, MJ ;
Murrell, JR ;
Ghetti, B ;
Klug, A ;
Goedert, M ;
Varani, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (14) :8229-8234
[37]   Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21 [J].
Wijker, M ;
Wszolek, ZK ;
Wolters, ECH ;
Rooimans, MA ;
Pals, G ;
Pfeiffer, RF ;
Lynch, T ;
Rodnitzky, RL ;
Wilhelmsen, KC ;
Arwert, F .
HUMAN MOLECULAR GENETICS, 1996, 5 (01) :151-154
[38]   17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and α-synuclein inclusions [J].
Wilhelmsen, KC ;
Forman, MS ;
Rosen, HJ ;
Alving, LI ;
Goldman, J ;
Feiger, J ;
Lee, JV ;
Segall, SK ;
Kramer, JH ;
Lomen-Hoerth, C ;
Rankin, KP ;
Johnson, J ;
Feiler, HS ;
Weiner, MW ;
Lee, VMY ;
Trojanowski, JQ ;
Miller, BL .
ARCHIVES OF NEUROLOGY, 2004, 61 (03) :398-406
[39]   Aberrant splicing of tau Pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17 (vol 20, pg 4036, 2000) [J].
Jiang, ZH ;
Cote, J ;
Kwon, JM ;
Goate, AM ;
Wu, JY .
MOLECULAR AND CELLULAR BIOLOGY, 2000, 20 (14) :5360-5360
[40]   The Otto Aufranc Award Identification of a 4 Mb Region on Chromosome 17q21 Linked to Developmental Dysplasia of the Hip in One 18-member, Multigeneration Family [J].
Feldman, George ;
Dalsey, Chelsea ;
Fertala, Kasia ;
Azimi, David ;
Fortina, Paolo ;
Devoto, Marcella ;
Pacifici, Maurizio ;
Parvizi, Javad .
CLINICAL ORTHOPAEDICS AND RELATED RESEARCH, 2010, 468 (02) :337-344