Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.
Amyloid
TTR
gene-silencing
polyneuropathy
treatment
Journal
Journal of neuromuscular diseases
ISSN: 2214-3602
Titre abrégé: J Neuromuscul Dis
Pays: Netherlands
ID NLM: 101649948
Informations de publication
Date de publication:
2019
2019
Historique:
pubmed:
5
3
2019
medline:
18
12
2019
entrez:
5
3
2019
Statut:
ppublish
Résumé
Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in the transthyretin gene (TTR) being the most common cause of hereditary amyloidosis. ATTRm amyloidosis is a multi-system disorder with cardiovascular, peripheral and autonomic nerve involvement that can be difficult to diagnose due to phenotypic heterogeneity. This review will focus on the neuropathic manifestations of ATTRm, the genotype-phenotype variability, the diagnostic approach and the recent therapeutic advances in this disabling condition.
Identifiants
pubmed: 30829617
pii: JND180371
doi: 10.3233/JND-180371
pmc: PMC6598024
doi:
Substances chimiques
Prealbumin
0
TTR protein, human
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
189-199Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U54 NS065712
Pays : United States
Références
Ann Med. 2015;47(8):625-38
pubmed: 26611723
Am J Clin Dermatol. 2017 Jun;18(3):355-372
pubmed: 28224502
J Clin Neuromuscul Dis. 2010 Mar;11(3):145-57
pubmed: 20215989
EMBO Mol Med. 2015 Aug 18;7(10):1337-49
pubmed: 26286619
Muscle Nerve. 1999 Jan;22(1):105-7
pubmed: 9883863
Pract Neurol. 2018 Apr;18(2):126-131
pubmed: 29455156
J Neurol Neurosurg Psychiatry. 2015 Feb;86(2):159-67
pubmed: 25091367
Orphanet J Rare Dis. 2018 Jan 17;13(1):6
pubmed: 29343286
Curr Opin Neurol. 2016 Feb;29 Suppl 1:S3-S13
pubmed: 26734951
Eur J Neurol. 2017 Dec;24(12):1437-1445
pubmed: 28888072
Am J Transplant. 2007 Nov;7(11):2597-604
pubmed: 17868062
Eur J Neurol. 2019 Mar;26(3):497-e36
pubmed: 30350904
Amyloid. 2013 Dec;20(4):263-8
pubmed: 24131106
Toxicol Appl Pharmacol. 2004 Nov 15;201(1):66-83
pubmed: 15519609
Hum Genet. 1992 May;89(3):353-6
pubmed: 1351039
Genomics. 1990 Oct;8(2):318-23
pubmed: 2123470
J Neurol Neurosurg Psychiatry. 2015 Sep;86(9):1036-43
pubmed: 25604431
Neurologist. 2010 Jul;16(4):215-22
pubmed: 20592565
Amyloid. 2016 Dec;23(4):209-213
pubmed: 27884064
JAMA. 2013 Dec 25;310(24):2658-67
pubmed: 24368466
Amyloid. 2009 Dec;16(4):232-8
pubmed: 19922336
Transplantation. 2015 Sep;99(9):1847-54
pubmed: 26308415
Am J Med. 2006 Apr;119(4):355.e15-24
pubmed: 16564782
Lancet Neurol. 2011 Dec;10(12):1086-97
pubmed: 22094129
Curr Opin Neurol. 2016 Feb;29 Suppl 1:S14-26
pubmed: 26734952
J Clin Neurol. 2013 Jan;9(1):1-8
pubmed: 23346153
Nat Rev Rheumatol. 2010 Jul;6(7):417-29
pubmed: 20531382
J Neurol Neurosurg Psychiatry. 1995 Jul;59(1):45-9
pubmed: 7608709
Clin Auton Res. 2011 Apr;21(2):69-72
pubmed: 21431947
J Peripher Nerv Syst. 2016 Mar;21(1):5-9
pubmed: 26663427
Lancet Neurol. 2017 Nov;16(11):934-944
pubmed: 29029847
J Neurol. 2015 Jan;262(1):228-34
pubmed: 25488473
J Transl Med. 2010 Jul 30;8:74
pubmed: 20673327
Curr Probl Cancer. 2016 Sep - Dec;40(5-6):198-208
pubmed: 27979324
N Engl J Med. 2018 Nov 22;379(21):2085-6
pubmed: 30484623
N Engl J Med. 2018 Jul 05;379(1):22-31
pubmed: 29972757
Am J Hematol. 2018 Sep;93(9):1169-1180
pubmed: 30040145
Neuromuscul Disord. 2015 Jun;25(6):511-5
pubmed: 25819286
Ann Neurol. 2015 Dec;78(6):901-16
pubmed: 26369527
Lancet. 2016 Jun 25;387(10038):2641-2654
pubmed: 26719234
Neurology. 2018 Jul 10;91(2):e143-e152
pubmed: 29907605
Eur Heart J. 2013 Feb;34(7):520-8
pubmed: 22745357
N Engl J Med. 2018 Jul 5;379(1):11-21
pubmed: 29972753
Alzheimers Res Ther. 2017 Oct 5;9(1):82
pubmed: 28982376
Neurology. 2007 Aug 14;69(7):693-8
pubmed: 17698792
Transplantation. 2004 Feb 15;77(3):345-9
pubmed: 14966406
Expert Opin Pharmacother. 2016;17(6):791-802
pubmed: 26800456
Amyloid. 2018 Mar;25(1):62-67
pubmed: 29424556
Eur J Nucl Med Mol Imaging. 2011 Mar;38(3):470-8
pubmed: 21069320
Clin Auton Res. 2019 Apr;29(2):245-251
pubmed: 29511897
Amyloid. 2017 Sep;24(3):194-204
pubmed: 28758793
Biochemistry. 2016 Apr 5;55(13):1941-4
pubmed: 26998642
Br Med Bull. 2013;107:41-56
pubmed: 23896486
Neurology. 2012 Aug 21;79(8):785-92
pubmed: 22843282
N Engl J Med. 2018 Sep 13;379(11):1007-1016
pubmed: 30145929
J Neuroendocrinol. 2015 May;27(5):303-23
pubmed: 25737004
Blood. 2012 Oct 18;120(16):3206-13
pubmed: 22948045
Amyloid. 2016 Sep;23(3):194-202
pubmed: 27647161
J Neurol Neurosurg Psychiatry. 2017 May;88(5):457-458
pubmed: 28188196