Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies.

TDP-43 = TAR DNA-binding protein 43 amyotrophic lateral sclerosis (ALS) biomarker (BM) cerebrospinal fluid (CSF) frontotemporal dementia (FTD) frontotemporal lobar degeneration neuroimage neuropathology

Journal

Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899

Informations de publication

Date de publication:
2021
Historique:
received: 30 07 2021
accepted: 09 12 2021
entrez: 4 2 2022
pubmed: 5 2 2022
medline: 5 2 2022
Statut: epublish

Résumé

Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) lie at opposing ends of a clinical, genetic, and neuropathological continuum. In the last decade, it has become clear that cognitive and behavioral changes in patients with ALS are more frequent than previously recognized. Significantly, these non-motor features can impact the diagnosis, prognosis, and management of ALS. Partially overlapping neuropathological staging systems have been proposed to describe the distribution of TAR DNA-binding protein 43 (TDP-43) aggregates outside the corticospinal tract. However, the relationship between TDP-43 inclusions and neurodegeneration is not absolute and other pathophysiological processes, such as neuroinflammation (with a prominent role of microglia), cortical hyperexcitability, and synaptic dysfunction also play a central role in ALS pathophysiology. In the last decade, imaging and biofluid biomarker studies have revealed important insights into the pathophysiological underpinnings of extra-motor neurodegeneration in the ALS-FTLD continuum. In this review, we first summarize the clinical and pathophysiological correlates of extra-motor neurodegeneration in ALS. Next, we discuss the diagnostic and prognostic value of biomarkers in ALS and their potential to characterize extra-motor neurodegeneration. Finally, we debate about how biomarkers could improve the diagnosis and classification of ALS. Emerging imaging biomarkers of extra-motor neurodegeneration that enable the monitoring of disease progression are particularly promising. In addition, a growing arsenal of biofluid biomarkers linked to neurodegeneration and neuroinflammation are improving the diagnostic accuracy and identification of patients with a faster progression rate. The development and validation of biomarkers that detect the pathological aggregates of TDP-43

Identifiants

pubmed: 35115992
doi: 10.3389/fneur.2021.750543
pmc: PMC8804092
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

750543

Informations de copyright

Copyright © 2022 Reyes-Leiva, Dols-Icardo, Sirisi, Cortés-Vicente, Turon-Sans, de Luna, Blesa, Belbin, Montal, Alcolea, Fortea, Lleó, Rojas-García and Illán-Gala.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Références

Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(7-8):624-626
pubmed: 32772750
Amyotroph Lateral Scler. 2010 May 3;11(3):303-11
pubmed: 20433413
J Neurosci Res. 1994 Jun 15;38(3):336-47
pubmed: 7523689
J Clin Invest. 2020 Nov 2;130(11):6080-6092
pubmed: 32790644
Lancet Neurol. 2016 Oct;15(11):1182-94
pubmed: 27647646
Hum Mutat. 2013 Feb;34(2):363-73
pubmed: 23111906
Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):9-14
pubmed: 23781974
Oncotarget. 2017 Jul 4;8(27):44994-45007
pubmed: 28402959
Acta Neuropathol Commun. 2020 Apr 29;8(1):61
pubmed: 32349792
Dement Geriatr Cogn Disord. 2013;35(3-4):208-18
pubmed: 23467307
Alzheimers Dement (Amst). 2019 Nov 04;11:730-743
pubmed: 31909174
Acta Neuropathol. 2019 May;137(5):715-730
pubmed: 30465257
J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):157-164
pubmed: 30309882
Virus Res. 2015 Sep 2;207:94-105
pubmed: 25656065
Neurology. 2016 Dec 13;87(24):2554-2561
pubmed: 27837005
Mol Neurodegener. 2020 Aug 17;15(1):46
pubmed: 32807227
J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):12-20
pubmed: 26296871
PLoS One. 2012;7(12):e52941
pubmed: 23300829
JAMA Neurol. 2018 Jun 1;75(6):738-745
pubmed: 29554190
Acta Neuropathol. 2012 Sep;124(3):339-52
pubmed: 22903397
Neurology. 2018 Oct 9;91(15):e1390-e1401
pubmed: 30209235
Neurology. 2019 Sep 3;93(10):e984-e994
pubmed: 31409738
Neurosci Lett. 2013 May 24;543:172-6
pubmed: 23567743
Mov Disord. 2017 Dec;32(12):1772-1779
pubmed: 29082658
Nat Rev Neurol. 2021 Jun;17(6):333-348
pubmed: 33927394
Neurology. 2012 Sep 25;79(13):1377-83
pubmed: 22972650
Nat Rev Neurol. 2015 Jan;11(1):41-55
pubmed: 25511894
Brain. 2020 May 1;143(5):1555-1571
pubmed: 32438414
Clin Pharmacol Ther. 2001 Mar;69(3):89-95
pubmed: 11240971
Acta Neurol Scand. 2010 Dec;122(6):425-9
pubmed: 20219021
Dement Geriatr Cogn Dis Extra. 2016 Apr 16;6(1):142-9
pubmed: 27195002
Brain. 2011 Sep;134(Pt 9):2456-77
pubmed: 21810890
Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):153-174
pubmed: 28054827
J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):68-74
pubmed: 34417339
Alzheimers Dement. 2015 Sep;11(9):1110-20
pubmed: 25449529
Neurology. 2018 Oct 23;91(17):e1619-e1628
pubmed: 30291183
Neurobiol Aging. 2014 Apr;35(4):916-25
pubmed: 24211007
Ann Neurol. 2013 Jul;74(1):20-38
pubmed: 23686809
Brain. 2016 Dec;139(Pt 12):3202-3216
pubmed: 27797809
Neurology. 2013 Nov 26;81(22):1945-52
pubmed: 24174584
Neurology. 2014 Sep 16;83(12):1067-74
pubmed: 25122207
Nat Rev Neurol. 2017 Jul;13(7):406-419
pubmed: 28621768
Neurology. 2015 Jun 2;84(22):2247-57
pubmed: 25934855
Acta Neuropathol. 2014 Mar;127(3):347-57
pubmed: 24356984
Neurobiol Dis. 2004 Apr;15(3):601-9
pubmed: 15056468
PLoS One. 2018 Aug 9;13(8):e0200953
pubmed: 30091987
Biochem Biophys Res Commun. 2006 Apr 21;342(4):1034-9
pubmed: 16516157
Brain Commun. 2020 Sep 14;2(2):fcaa142
pubmed: 33094285
Nat Neurosci. 2017 Mar;20(3):393-395
pubmed: 28135241
JAMA Neurol. 2017 May 1;74(5):525-532
pubmed: 28264096
BMC Neurol. 2018 Jun 28;18(1):90
pubmed: 29954341
Cold Spring Harb Perspect Biol. 2017 Apr 3;9(4):
pubmed: 28373358
J Neurol Neurosurg Psychiatry. 2021 Sep 28;:
pubmed: 34583942
Neurology. 2015 Dec 8;85(23):2060-2
pubmed: 26432849
Brain Res. 2018 Aug 15;1693(Pt A):98-108
pubmed: 29453960
JAMA Neurol. 2014 Apr;71(4):449-53
pubmed: 24535663
Neurology. 2013 Jan 29;80(5):458-63
pubmed: 23303844
Biochem Biophys Res Commun. 2006 Dec 22;351(3):602-11
pubmed: 17084815
Hum Brain Mapp. 2016 Apr;37(4):1614-26
pubmed: 26833930
Front Neurosci. 2020 Feb 05;14:42
pubmed: 32116499
Lancet Neurol. 2019 Feb;18(2):211-220
pubmed: 30663610
J Cell Sci. 2010 Apr 15;123(Pt 8):1191-201
pubmed: 20356930
Lancet Neurol. 2013 Apr;12(4):368-80
pubmed: 23518330
J Alzheimers Dis. 2020;77(3):1129-1141
pubmed: 32804092
N Engl J Med. 2017 Jul 13;377(2):162-172
pubmed: 28700839
Alzheimers Dement. 2013 Nov;9(6):706-13
pubmed: 23688578
Sci Rep. 2017 Aug 22;7(1):9094
pubmed: 28831083
Brain. 2019 Jun 1;142(6):1503-1527
pubmed: 31039256
Ann Neurol. 2018 Feb;83(2):258-268
pubmed: 29331073
Nat Rev Neurosci. 2003 Jun;4(6):469-80
pubmed: 12778119
Acta Neuropathol. 2014 Mar;127(3):423-439
pubmed: 24407427
Acta Neuropathol. 2014 Sep;128(3):423-37
pubmed: 24916269
Acta Neuropathol. 2018 Feb;135(2):213-226
pubmed: 29273900
J Neurol Sci. 2015 Jan 15;348(1-2):206-10
pubmed: 25524526
Neurology. 2018 Oct 9;91(15):e1370-e1380
pubmed: 30209236
Neurobiol Aging. 2015 Jan;36(1):413-23
pubmed: 25063233
J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):162-168
pubmed: 28889094
Neurology. 2016 Sep 6;87(10):1019-23
pubmed: 27488596
Brain. 2019 Sep 1;142(9):e47
pubmed: 31359030
Neurology. 2015 Dec 15;85(24):2116-25
pubmed: 26581300
Amyotroph Lateral Scler Other Motor Neuron Disord. 2004 Dec;5(4):213-9
pubmed: 15799549
Amyotroph Lateral Scler. 2012 Jan;13(1):102-9
pubmed: 22214356
Neurology. 2016 Sep 27;87(13):1329-36
pubmed: 27581216
J Alzheimers Dis. 2016 Nov 19;55(2):585-595
pubmed: 27662293
Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):86-91
pubmed: 25352065
Front Neurosci. 2020 Apr 16;14:354
pubmed: 32372911
J Neurol Neurosurg Psychiatry. 2006 Nov;77(11):1253-5
pubmed: 16835288
Neuroimage Clin. 2018 May 17;19:675-682
pubmed: 30023173
Expert Rev Neurother. 2018 May;18(5):395-406
pubmed: 29630421
Neurology. 2020 Aug 25;95(8):e943-e952
pubmed: 32646955
JAMA Neurol. 2016 Apr;73(4):425-30
pubmed: 26903389
Ann Clin Transl Neurol. 2021 Jan;8(1):271-277
pubmed: 33263951
Arch Neurol. 2006 Aug;63(8):1144-8
pubmed: 16908742
Lancet Neurol. 2020 Nov;19(11):951-962
pubmed: 33098804
JAMA Neurol. 2014 Apr;71(4):442-8
pubmed: 24492862
Neuropsychol Rev. 2018 Jun;28(2):251-268
pubmed: 29705950
EMBO Mol Med. 2017 Jul;9(7):859-868
pubmed: 28408402
JAMA Neurol. 2019 Sep 1;76(9):1035-1048
pubmed: 31206160
Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9
pubmed: 11464847
Neurology. 2019 Aug 20;93(8):e758-e765
pubmed: 31315971
Ann Clin Transl Neurol. 2019 Jan 31;6(3):486-495
pubmed: 30911572
Neurology. 2003 Apr 8;60(7):1094-7
pubmed: 12682312
Nat Rev Neurol. 2016 Nov;12(11):651-661
pubmed: 27658852
J Neuroimmunol. 1984 Feb;6(1):51-7
pubmed: 6368581
Neuropsychologia. 2000;38(6):734-47
pubmed: 10689049
Brain Pathol. 2021 May;31(3):e12942
pubmed: 33576076
Mol Neurobiol. 2018 Oct;55(10):7789-7801
pubmed: 29460270
PLoS One. 2017 May 12;12(5):e0177680
pubmed: 28498852
Amyotroph Lateral Scler. 2011 Sep;12(5):372-8
pubmed: 21585273
Radiology. 1997 Jun;203(3):829-36
pubmed: 9169712
Neurol Neuroimmunol Neuroinflamm. 2020 Jul 15;7(5):
pubmed: 32669313
J Neuropathol Exp Neurol. 2017 May 1;76(5):402-413
pubmed: 28521037
Acta Neuropathol. 2013 Dec;126(6):829-44
pubmed: 24129584
Front Neurosci. 2019 Dec 06;13:1310
pubmed: 31866818
Neurobiol Dis. 2011 Jun;42(3):211-20
pubmed: 21220013
Mol Cell. 2015 Oct 1;60(1):7-20
pubmed: 26365381
J Neurol Neurosurg Psychiatry. 2016 Dec;87(12):1354-1360
pubmed: 27756805
Immunity. 2012 Aug 24;37(2):223-34
pubmed: 22921120
Front Neurosci. 2021 Jun 21;15:679199
pubmed: 34234641
Arch Neurol. 1993 Jan;50(1):30-6
pubmed: 8093428
Ann Clin Transl Neurol. 2019 Dec;6(12):2518-2530
pubmed: 31789459
Ann Clin Transl Neurol. 2016 Feb 01;3(3):216-25
pubmed: 27042681
Neurology. 2020 Jun 16;94(24):e2592-e2604
pubmed: 32414878
Neuron. 2010 Dec 9;68(5):857-64
pubmed: 21145000
Neurobiol Dis. 2021 Jul;154:105360
pubmed: 33812000
JAMA Neurol. 2014 May;71(5):553-61
pubmed: 24615479
Alzheimers Dement (Amst). 2015 Dec 14;1(4):505-12
pubmed: 27239528
Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E4968-77
pubmed: 24248382
Nat Rev Neurosci. 2017 May;18(5):281-298
pubmed: 28360418
Front Mol Neurosci. 2019 Feb 14;12:25
pubmed: 30837838
Ann Neurol. 2004 Dec;56(6):894-7
pubmed: 15562429
Neurology. 2014 Nov 18;83(21):1945-53
pubmed: 25339208
Amyotroph Lateral Scler. 2010;11(1-2):157-65
pubmed: 19242831
Nat Rev Neurol. 2017 Aug;13(8):457-476
pubmed: 28708131
Neurology. 2011 Mar 15;76(11):1006-14
pubmed: 21325651
Brain. 2019 Apr 1;142(4):1121-1133
pubmed: 30906945
Acta Neuropathol Commun. 2021 Feb 23;9(1):30
pubmed: 33622418
J Neurol Neurosurg Psychiatry. 2020 Nov 23;:
pubmed: 33229451
Hum Brain Mapp. 2019 Nov 1;40(16):4827-4842
pubmed: 31348605
Neurology. 2020 Nov 3;95(18):e2565-e2576
pubmed: 32913016
J Neurochem. 2011 May;117(3):528-37
pubmed: 21418221
Hum Mol Genet. 2006 Oct 15;15(20):2988-3001
pubmed: 16950801
Curr Opin Neurol. 2019 Oct;32(5):740-746
pubmed: 31335337
Acta Neuropathol. 2020 Jan;139(1):83-98
pubmed: 31501924
Am J Physiol Cell Physiol. 2017 Jul 1;313(1):C3-C10
pubmed: 28424166
J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):180-186
pubmed: 30297518
Am J Pathol. 1992 Mar;140(3):691-707
pubmed: 1347673
J Neurol Neurosurg Psychiatry. 1990 Jan;53(1):23-32
pubmed: 2303828
Neurology. 2020 Nov 3;95(18):e2552-e2564
pubmed: 32913015
Front Aging Neurosci. 2016 Mar 30;8:64
pubmed: 27065078
Acta Neuropathol. 2019 Jan;137(1):27-46
pubmed: 30511086
Neurology. 2021 Apr 20;96(16):e2090-e2097
pubmed: 33827958
Transl Psychiatry. 2013 Feb 19;3:e227
pubmed: 23423136
Acta Neuropathol. 2017 Jan;133(1):79-90
pubmed: 27757524
Neuropathol Appl Neurobiol. 2019 Jun;45(4):421-426
pubmed: 30375034
Brain. 2006 Sep;129(Pt 9):2436-46
pubmed: 16835248
Curr Opin Neurol. 2021 Oct 1;34(5):765-772
pubmed: 34402459
Front Neurol. 2019 May 10;10:482
pubmed: 31133975
J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):861-869
pubmed: 30992335
Lancet Neurol. 2015 May;14(5):478-84
pubmed: 25843898
Neurodegener Dis. 2011;8(6):413-20
pubmed: 21709402
Neurology. 1997 Jan;48(1):55-7
pubmed: 9008494
Neurology. 2013 Dec 10;81(24):2107-15
pubmed: 24212388
Neurology. 2018 Jan 2;90(1):e22-e30
pubmed: 29212830
Dement Geriatr Cogn Disord. 2018;45(3-4):220-231
pubmed: 29886477
Lancet Neurol. 2018 Sep;17(9):773-781
pubmed: 30093249
Acta Neuropathol Commun. 2020 Jul 2;8(1):98
pubmed: 32616036
Amyotroph Lateral Scler Frontotemporal Degener. 2021 Nov;22(7-8):508-516
pubmed: 34229542
Acta Neuropathol. 2012 Mar;123(3):395-407
pubmed: 22210083
Brain Commun. 2021 May 01;3(2):fcab095
pubmed: 34693284
J Neurol Sci. 2001 Sep 15;190(1-2):21-7
pubmed: 11574102
J Neurol Neurosurg Psychiatry. 2019 Jan;90(1):4-10
pubmed: 30224549
Alzheimers Res Ther. 2018 Aug 16;10(1):79
pubmed: 30111356
Ann Clin Transl Neurol. 2018 Apr 06;5(5):583-597
pubmed: 29761121
Neurol Clin. 2015 Nov;33(4):787-805
pubmed: 26515622
Acta Neuropathol. 2007 Sep;114(3):221-9
pubmed: 17653732
Alzheimers Res Ther. 2015 Jul 01;7(1):47
pubmed: 26136857
Dement Geriatr Cogn Disord. 2008;26(4):343-50
pubmed: 18849605
Alzheimers Dement. 2021 Apr;17(4):618-628
pubmed: 33196147
Lancet. 2016 Aug 27;388(10047):919-31
pubmed: 26987909
J Clin Psychiatry. 2011 Feb;72(2):126-33
pubmed: 21382304
Nat Commun. 2021 Jun 7;12(1):3400
pubmed: 34099648
Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep;15(5-6):453-6
pubmed: 24981792
Brain. 2011 Sep;134(Pt 9):2582-94
pubmed: 21840887
Acta Neuropathol. 2015 Jan;129(1):1-19
pubmed: 25287911
Brain Pathol. 2017 Jul;27(4):472-479
pubmed: 27495267
Cortex. 2020 Oct;131:284-294
pubmed: 32811660
J Neurol Neurosurg Psychiatry. 1997 May;62(5):464-72
pubmed: 9153602
Nat Rev Neurol. 2018 Sep;14(9):544-558
pubmed: 30120348
Mol Biol Rep. 2021 Mar;48(3):2601-2610
pubmed: 33826063
J Child Psychol Psychiatry. 1982 Jan;23(1):1-20
pubmed: 6174536
Brain. 2011 Sep;134(Pt 9):2595-609
pubmed: 21856723
Acta Neuropathol. 2018 Sep;136(3):363-376
pubmed: 29700597
Sci Rep. 2020 Jun 8;10(1):9161
pubmed: 32514050
J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):149-157
pubmed: 31515300
Neurobiol Aging. 2011 Jun;32(6):1090-8
pubmed: 19604603
Alzheimers Res Ther. 2014 Nov 21;6(9):82
pubmed: 25419243
Psychiatry Res Neuroimaging. 2019 Jun 30;288:67-75
pubmed: 30987770
Cell Rep. 2013 Jul 11;4(1):124-34
pubmed: 23831027
Neuropathol Appl Neurobiol. 2021 Dec;47(7):1050-1059
pubmed: 33969528
Neurobiol Aging. 2020 Jul;91:167.e1-167.e9
pubmed: 32171590
J Child Psychol Psychiatry. 2001 Feb;42(2):241-51
pubmed: 11280420
Alzheimers Dement. 2018 Mar;14(3):340-351
pubmed: 29080407
Nature. 2020 Dec;588(7838):459-465
pubmed: 32866962
BMC Neurol. 2013 May 29;13:54
pubmed: 23718879
PLoS One. 2012;7(6):e39216
pubmed: 22720079
J Mol Neurosci. 2011 Nov;45(3):648-55
pubmed: 21809041
Neurology. 2010 Apr 20;74(16):1279-87
pubmed: 20404309
Neurology. 2013 Apr 23;80(17):1590-7
pubmed: 23553481
N Engl J Med. 2015 Jun 4;372(23):2229-34
pubmed: 26014593
J Neurol Neurosurg Psychiatry. 2004 Aug;75(8):1107-11
pubmed: 15258209
J Neuroinflammation. 2010 Jun 11;7:34
pubmed: 20540736
Lancet Neurol. 2015 Oct;14(10):1037-53
pubmed: 26318837
Alzheimers Dement. 2015 Dec;11(12):1407-1416
pubmed: 25936935
Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):296-300
pubmed: 32248719
J Neurol Sci. 2014 Oct 15;345(1-2):118-24
pubmed: 25086858
Acta Neuropathol. 2011 Jul;122(1):111-3
pubmed: 21644037
Cells. 2018 Nov 20;7(11):
pubmed: 30463376
Brain Pathol. 2016 Mar;26(2):266-75
pubmed: 26780671
Lancet Neurol. 2018 May;17(5):423-433
pubmed: 29598923
Neurology. 2017 Jul 11;89(2):178-188
pubmed: 28592456
J Proteome Res. 2015 Nov 6;14(11):4486-501
pubmed: 26401960
Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):469-471
pubmed: 29558868
Acta Neuropathol. 2017 Jul;134(1):65-78
pubmed: 28130640
Amyotroph Lateral Scler. 2010 Dec;11(6):549-54
pubmed: 20929296
Alzheimers Dement. 2020 Jan;16(1):131-143
pubmed: 31668596
Neurol Sci. 2021 Jun;42(6):2211-2222
pubmed: 33772353
Syst Rev. 2018 Dec 20;7(1):237
pubmed: 30572951
J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):580-8
pubmed: 26733601
Neuron. 2017 Jul 19;95(2):297-308.e6
pubmed: 28669544
Acta Neuropathol. 2009 Nov;118(5):647-58
pubmed: 19823856
Brain. 2014 Sep;137(Pt 9):2546-55
pubmed: 24951638
J Alzheimers Dis. 2021;81(2):629-640
pubmed: 33814444
Acta Neuropathol. 2013 Dec;126(6):895-905
pubmed: 24166615
J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1303-1304
pubmed: 31296587
Science. 2013 Mar 15;339(6125):1335-8
pubmed: 23393093
Nat Rev Neurol. 2019 Sep;15(9):540-555
pubmed: 31324897
Alzheimers Dement. 2020 Jul;16(7):974-982
pubmed: 32400950
Amyotroph Lateral Scler. 2010 May 3;11(3):298-302
pubmed: 20222805
Amyotroph Lateral Scler Frontotemporal Degener. 2015 Jun;16(3-4):172-9
pubmed: 25967542
Acta Neuropathol. 2017 Jul;134(1):79-96
pubmed: 28466142
Ann Clin Transl Neurol. 2019 Dec;6(12):2489-2502
pubmed: 31742901
Neuron. 2021 Feb 3;109(3):448-460.e4
pubmed: 33242422
J Neuroimaging. 2019 Sep;29(5):624-629
pubmed: 31173437
Neurology. 2016 Jan 5;86(1):44-9
pubmed: 26590270
JAMA Netw Open. 2021 Mar 1;4(3):e211290
pubmed: 33704477
Ann Neurol. 2014 Jan;75(1):116-26
pubmed: 24242746
Front Neurol. 2020 Dec 18;11:604922
pubmed: 33391167
Cold Spring Harb Perspect Med. 2012 Jul;2(7):a006338
pubmed: 22762015
Lancet Neurol. 2011 Mar;10(3):253-63
pubmed: 21349440
Brain. 1993 Dec;116 ( Pt 6):1399-423
pubmed: 8293278
Neurology. 2005 Jul 12;65(1):75-80
pubmed: 16009889
Brain. 2010 Nov;133(11):3444-57
pubmed: 20889583
Mol Cell Proteomics. 2019 Mar;18(3):546-560
pubmed: 30606734
Cell Rep. 2019 Oct 29;29(5):1164-1177.e5
pubmed: 31665631
J Neuropathol Exp Neurol. 2006 Jun;65(6):571-81
pubmed: 16783167
Neurology. 2016 Aug 2;87(5):539-47
pubmed: 27371494
Acta Neuropathol. 2018 Sep;136(3):389-404
pubmed: 29926172
Brain Commun. 2020 Aug 19;2(2):
pubmed: 33210084
Semin Nucl Med. 2021 May;51(3):303-308
pubmed: 33353722
Neuron. 2005 Dec 22;48(6):913-22
pubmed: 16364896
Brain Commun. 2020 May 15;2(2):fcaa061
pubmed: 33543125
Neurology. 2009 Jan 6;72(1):14-9
pubmed: 18987350
Neuropsychology. 2011 Jan;25(1):53-65
pubmed: 20919762
Science. 2006 Oct 6;314(5796):130-3
pubmed: 17023659
Neurology. 2018 Apr 3;90(14):e1231-e1239
pubmed: 29514947
Neurology. 2014 Jan 21;82(3):239-47
pubmed: 24353332
Ann Clin Transl Neurol. 2015 Jul;2(7):748-55
pubmed: 26273687
Rinsho Shinkeigaku. 2010 Nov;50(11):1013
pubmed: 21921548
Neurology. 2020 May 12;94(19):e2026-e2036
pubmed: 32291295
JAMA Neurol. 2018 Oct 1;75(10):1215-1224
pubmed: 30014145
PLoS One. 2010 Jul 14;5(7):e11552
pubmed: 20644736
JAMA Neurol. 2018 Nov 1;75(11):1347-1354
pubmed: 30422173
Neurology. 2018 May 1;90(18):e1578-e1587
pubmed: 29602913
Nat Rev Neurol. 2014 Nov;10(11):661-70
pubmed: 25311585
J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1270-1272
pubmed: 27188986
J Neurol Neurosurg Psychiatry. 2015 Feb;86(2):168-73
pubmed: 24769471

Auteurs

David Reyes-Leiva (D)

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Valencia, Spain.

Oriol Dols-Icardo (O)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Sonia Sirisi (S)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Elena Cortés-Vicente (E)

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Valencia, Spain.

Janina Turon-Sans (J)

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Valencia, Spain.

Noemi de Luna (N)

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Valencia, Spain.

Rafael Blesa (R)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Olivia Belbin (O)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Victor Montal (V)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Daniel Alcolea (D)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Juan Fortea (J)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Alberto Lleó (A)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Ricard Rojas-García (R)

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER, Valencia, Spain.

Ignacio Illán-Gala (I)

Sant Pau Memory Unit, Department of Neurology, Biomedical Research Institute Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

Classifications MeSH