Age of Onset
Aged
Aged, 80 and over
Aphasia, Primary Progressive
/ genetics
C9orf72 Protein
/ genetics
Cohort Studies
DNA Repeat Expansion
Europe
Female
Frontotemporal Dementia
/ genetics
Frontotemporal Lobar Degeneration
/ genetics
Geography
Humans
Male
Mediterranean Region
Middle Aged
Principal Component Analysis
Scandinavian and Nordic Countries
Syndrome
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
15 12 2020
15 12 2020
Historique:
received:
15
04
2020
accepted:
12
08
2020
pubmed:
19
9
2020
medline:
26
1
2021
entrez:
18
9
2020
Statut:
ppublish
Résumé
We sought to characterize We evaluated expansions frequency in the entire cohort (n = 1,396; behavioral variant frontotemporal dementia [bvFTD] [n = 800], primary progressive aphasia [PPA] [n = 495], and FTLD-motor neuron disease [MND] [n = 101]). We then focused on the bvFTD and PPA cases and tested for association between expansion status, syndromes, genetic ancestry, and AAO applying statistical tests comprising Fisher exact tests, analysis of variance with Tukey post hoc tests, and logistic and nonlinear mixed-effects model regressions. We found Our results indicate correlation between pathogenic
Identifiants
pubmed: 32943482
pii: WNL.0000000000010914
doi: 10.1212/WNL.0000000000010914
pmc: PMC7836664
doi:
Substances chimiques
C9orf72 Protein
0
C9orf72 protein, human
0
Types de publication
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e3288-e3302Subventions
Organisme : Medical Research Council
ID : SUAG004/91365
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N026004/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 103838
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : P01 AG017586
Pays : United States
Organisme : NIA NIH HHS
ID : P50 AG008702
Pays : United States
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0801418
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : P01 AG026276
Pays : United States
Organisme : Medical Research Council
ID : MR/T04604X/1
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : P30 AG062422
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG019724
Pays : United States
Organisme : NIA NIH HHS
ID : P01 AG066597
Pays : United States
Organisme : Medical Research Council
ID : G0900652
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/P005748/1
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : K01 AG049152
Pays : United States
Organisme : NIA NIH HHS
ID : RF1 AG053303
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG062268
Pays : United States
Organisme : Medical Research Council
ID : G0400074
Pays : United Kingdom
Organisme : Department of Health
ID : RG64473
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L023784/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0502157
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : P50 AG023501
Pays : United States
Organisme : Wellcome Trust
ID : 202903/Z/16/Z
Pays : United Kingdom
Organisme : NIMH NIH HHS
ID : R01 MH120794
Pays : United States
Organisme : NIA NIH HHS
ID : R01 AG044546
Pays : United States
Organisme : NIA NIH HHS
ID : U01 AG058922
Pays : United States
Informations de copyright
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
Références
Neuron. 2011 Oct 20;72(2):257-68
pubmed: 21944779
Brain. 2018 Oct 1;141(10):2895-2907
pubmed: 30252044
JAMA Neurol. 2017 Apr 1;74(4):445-452
pubmed: 28192553
Lancet Neurol. 2010 Oct;9(10):978-85
pubmed: 20801718
Neurology. 1998 Dec;51(6):1546-54
pubmed: 9855500
Neurology. 2011 Mar 15;76(11):1006-14
pubmed: 21325651
Neurobiol Aging. 2015 Jan;36(1):546.e1-7
pubmed: 25179228
J Alzheimers Dis. 2015;45(1):319
pubmed: 25737153
Am J Hum Genet. 2013 Mar 7;92(3):345-53
pubmed: 23434116
Brain. 2012 Mar;135(Pt 3):723-35
pubmed: 22300876
Hum Mutat. 2013 Feb;34(2):363-73
pubmed: 23111906
Neurobiol Aging. 2012 Aug;33(8):1850.e1-11
pubmed: 22459598
J Neurochem. 2016 Aug;138 Suppl 1:32-53
pubmed: 27009575
Brain. 2011 Sep;134(Pt 9):2456-77
pubmed: 21810890
Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):153-174
pubmed: 28054827
Alzheimers Dement. 2019 Apr;15(4):553-560
pubmed: 30599136
Neurobiol Aging. 2019 Jun;78:98-110
pubmed: 30925302
Behav Neurol. 2019 Jan 15;2019:2909168
pubmed: 30774737
J Neurol Neurosurg Psychiatry. 2011 May;82(5):476-86
pubmed: 20971753
Lancet Neurol. 2012 Apr;11(4):323-30
pubmed: 22406228
Dement Neuropsychol. 2015 Jul-Sep;9(3):219-229
pubmed: 29213965
J Hum Genet. 2017 Feb;62(2):321-324
pubmed: 27557666
BMC Genomics. 2015 Dec 21;16:1093
pubmed: 26690364
Neurobiol Aging. 2012 Jan;33(1):209.e3-8
pubmed: 21925771
PLoS Biol. 2013;11(5):e1001555
pubmed: 23667324
Neurobiol Aging. 2017 Sep;57:247.e9-247.e13
pubmed: 28602509
Neurobiol Aging. 2019 Feb;74:234.e1-234.e8
pubmed: 30337192
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
J Neurol Neurosurg Psychiatry. 2017 Dec;88(12):1042-1044
pubmed: 28642287
Mol Psychiatry. 2016 Aug;21(8):1112-24
pubmed: 26481318
Biol Psychiatry. 2013 Sep 1;74(5):384-91
pubmed: 23473366
Nat Rev Neurol. 2018 Jun;14(6):363-378
pubmed: 29777184
Lancet Neurol. 2013 Oct;12(10):978-88
pubmed: 24011653
Neurobiol Aging. 2019 Mar;75:224.e1-224.e8
pubmed: 30528349
Neurology. 2002 Jun 11;58(11):1615-21
pubmed: 12058088
Am J Hum Genet. 2009 Mar;84(3):351-66
pubmed: 19249009
Am J Hum Genet. 2015 Jun 4;96(6):962-70
pubmed: 26004200
JAMA Neurol. 2015 Dec;72(12):1501-9
pubmed: 26501846