Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?
biomarkers
inherited neuromuscular disorders
rare diseases
Journal
Brain sciences
ISSN: 2076-3425
Titre abrégé: Brain Sci
Pays: Switzerland
ID NLM: 101598646
Informations de publication
Date de publication:
21 Mar 2021
21 Mar 2021
Historique:
received:
14
02
2021
revised:
08
03
2021
accepted:
18
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
4
4
2021
Statut:
epublish
Résumé
Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several different lab abnormalities have been linked to INMD: sometimes they are typical of the disorder, but they usually appear to be less specific. Sometimes serum biomarkers can point out abnormalities in presymtomatic or otherwise asymptomatic patients (e.g., carriers). More often a biomarker of INMD is evaluated by multiple clinicians other than expert in NMD before the diagnosis, because of the multisystemic involvement in INMD. The authors performed a literature search on biomarkers in inherited neuromuscular disorders to provide a practical approach to the diagnosis and the correct management of INMD. A considerable number of biomarkers have been reported that support the diagnosis of INMD, but the role of an expert clinician is crucial. Hence, the complete knowledge of such abnormalities can accelerate the diagnostic workup supporting the referral to specialists in neuromuscular disorders.
Identifiants
pubmed: 33801069
pii: brainsci11030398
doi: 10.3390/brainsci11030398
pmc: PMC8004068
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Références
Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944
pubmed: 31139691
Rev Neurol (Paris). 2016 Oct;172(10):546-558
pubmed: 27663056
Eur J Endocrinol. 2020 Nov;183(5):505-512
pubmed: 33107434
Lancet Neurol. 2020 Jun;19(6):522-532
pubmed: 32470424
Neurochem Res. 2008 Nov;33(11):2358-63
pubmed: 18481174
Neurol Neuroimmunol Neuroinflamm. 2018 Dec 24;6(2):e535
pubmed: 30697585
Amyloid. 2021 Mar;28(1):50-55
pubmed: 32883119
Orphanet J Rare Dis. 2017 Mar 9;12(1):48
pubmed: 28274233
J Inherit Metab Dis. 2007 Oct;30(5):642-53
pubmed: 17879144
Amyloid. 2020 Jun;27(2):97-102
pubmed: 31906707
Neurosci Lett. 2010 Jan 1;468(1):23-7
pubmed: 19853641
Medicine (Baltimore). 2018 Jun;97(22):e10785
pubmed: 29851785
Trends Mol Med. 2017 Nov;23(11):989-1001
pubmed: 28988850
Continuum (Minneap Minn). 2019 Dec;25(6):1599-1618
pubmed: 31794462
Eur J Neurol. 2017 Jun;24(6):768-e31
pubmed: 28477382
J Neurol. 2020 Jan 6;:
pubmed: 31907599
Hum Mutat. 2012 Jan;33(1):118-23
pubmed: 21922592
Am J Hum Genet. 2008 Feb;82(2):510-5
pubmed: 18252231
J Inherit Metab Dis. 2016 Jan;39(1):93-106
pubmed: 26287655
Sci Rep. 2018 Jul 10;8(1):10372
pubmed: 29991727
Mol Genet Metab. 2017 Dec;122(4):209-215
pubmed: 29089175
J Neurochem. 2002 Mar;80(5):727-35
pubmed: 11948235
Front Neurol. 2020 Nov 13;11:552295
pubmed: 33281700
JIMD Rep. 2018;38:33-40
pubmed: 28456887
Orphanet J Rare Dis. 2019 Nov 4;14(1):240
pubmed: 31684987
Neuromuscul Disord. 2010 Mar;20(3):166-73
pubmed: 20080402
Neurology. 2020 Mar 3;94(9):e921-e931
pubmed: 31882526
Continuum (Minneap Minn). 2019 Dec;25(6):1767-1784
pubmed: 31794470
Neuroepidemiology. 2016;46(3):157-65
pubmed: 26849231
Neuromuscul Disord. 2014 Apr;24(4):365-7
pubmed: 24530047
ASN Neuro. 2016 Sep 28;8(5):
pubmed: 27683876
Genet Med. 2017 Dec;19(12):
pubmed: 28771246
Neurology. 2011 Apr 5;76(14):1206-13
pubmed: 21346223
Expert Opin Med Diagn. 2013 Nov;7(6):517-29
pubmed: 24066928
J Clin Neurosci. 2012 Jan;19(1):65-70
pubmed: 22030266
BMC Neurol. 2019 Jun 28;19(1):146
pubmed: 31253122
Can J Anaesth. 2017 Jul;64(7):736-743
pubmed: 28326467
Biochem Biophys Res Commun. 2006 Apr 21;342(4):1034-9
pubmed: 16516157
J Cell Mol Med. 2018 Apr;22(4):2442-2448
pubmed: 29441734
Ann Neurol. 2002 Aug;52(2):153-9
pubmed: 12210784
Biochim Biophys Acta. 2016 Jul;1862(7):1367-73
pubmed: 27085974
Brain. 2009 Oct;132(Pt 10):2688-98
pubmed: 19696032
Muscle Nerve. 2012 Feb;45(2):279-83
pubmed: 22246887
Parkinsonism Relat Disord. 2009 Mar;15(3):205-12
pubmed: 18562238
Indian J Gastroenterol. 2016 Nov;35(6):405-418
pubmed: 27796941
Ann Neurol. 2016 Jan;79(1):152-8
pubmed: 26528863
J Neurol. 2013 Jun;260(6):1504-10
pubmed: 23329375
Sci Rep. 2020 Sep 15;10(1):15093
pubmed: 32934269
Neurosciences (Riyadh). 2019 Jul;24(3):225-230
pubmed: 31380823
J Neurol Sci. 2011 Oct 15;309(1-2):9-11
pubmed: 21855088
Muscle Nerve. 2003 Mar;27(3):359-66
pubmed: 12635123
Hum Mol Genet. 2012 Aug 15;21(16):3632-46
pubmed: 22619379
J Neuromuscul Dis. 2020;7(3):231-246
pubmed: 32390640
Nucleus. 2018 Jan 1;9(1):292-304
pubmed: 29693488
Hum Mutat. 2000;15(3):238-45
pubmed: 10679939
PLoS One. 2020 Sep 8;15(9):e0238624
pubmed: 32898135
Biomark Med. 2014;8(5):641-52
pubmed: 25123033
JAMA Cardiol. 2017 Mar 1;2(3):305-313
pubmed: 28196196
Neurology. 2000 Dec 12;55(11):1697-703
pubmed: 11113225
J Neurol Neurosurg Psychiatry. 2018 Feb;89(2):156-161
pubmed: 29084868
J Neurol Sci. 2012 Jul 15;318(1-2):65-71
pubmed: 22521272
Sci Transl Med. 2010 Nov 3;2(56):56ra81
pubmed: 21048217
Genet Med. 2020 Jun;22(6):1108-1118
pubmed: 32089546
Nephrol Ther. 2016 Nov;12(6):431-436
pubmed: 27372182
QJM. 2001 Aug;94(8):403-6
pubmed: 11493716
J Neurol. 2010 May;257(5):774-81
pubmed: 19960200
Front Hum Neurosci. 2020 Dec 07;14:560860
pubmed: 33364925
Muscle Nerve. 2015 Mar;51(3):449-54
pubmed: 25363903
Neurology. 2021 Jan 19;96(3):e412-e422
pubmed: 33087494
Neurology. 2006 Mar 28;66(6):852-6
pubmed: 16567701
Medicine (Baltimore). 2020 Jun 5;99(23):e20523
pubmed: 32502004
Neurology. 2013 Apr 16;80(16):1472-5
pubmed: 23516313
Neurogenetics. 2011 Aug;12(3):193-201
pubmed: 21465257
Hong Kong Med J. 2011 Feb;17(1):67-70
pubmed: 21282829
Cerebellum. 2016 Apr;15(2):165-73
pubmed: 26054379
Neuropediatrics. 2016 Aug;47(4):205-20
pubmed: 27089543
Br Med J. 1967 Feb 25;1(5538):451-5
pubmed: 6017520
Science. 1999 Jan 29;283(5402):689-92
pubmed: 9924029
Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614
pubmed: 24305449
J Clin Pathol. 2014 Jan;67(1):60-5
pubmed: 23908454
Blood. 2010 Apr 15;115(15):2998-3007
pubmed: 19633201
Brain. 2003 Dec;126(Pt 12):2761-72
pubmed: 14506070
Sci Rep. 2016 Apr 15;6:24579
pubmed: 27079147
Eur J Endocrinol. 2011 Dec;165(6):969-75
pubmed: 21964963
Ann Neurol. 2012 Mar;71(3):304-13
pubmed: 22451200
J Neurol Neurosurg Psychiatry. 2014 Nov;85(11):1209-13
pubmed: 24639436
Hum Mutat. 2006 Jul;27(7):718
pubmed: 16786513
JAMA Neurol. 2017 Jun 1;74(6):660-667
pubmed: 28384752
J Neurol Neurosurg Psychiatry. 2002 Feb;72(2):230-5
pubmed: 11796774
Handb Clin Neurol. 2018;148:505-520
pubmed: 29478596
Orphanet J Rare Dis. 2013 Aug 14;8:123
pubmed: 23941260
BMC Neurol. 2018 Sep 22;18(1):154
pubmed: 30243293
Mol Genet Metab. 2012 Nov;107(3):462-8
pubmed: 22981821
Tremor Other Hyperkinet Mov (N Y). 2019 Oct 10;9:
pubmed: 31656689
Mol Genet Metab. 2017 Jan - Feb;120(1-2):27-33
pubmed: 28164782
Clin Chim Acta. 2011 Aug 17;412(17-18):1533-8
pubmed: 21596026
J Neurol. 2018 Jul;265(7):1618-1624
pubmed: 29737427
Neurology. 2016 Jul 19;87(3):295-8
pubmed: 27170567
Curr Opin Neurol. 2017 Oct;30(5):449-456
pubmed: 28737584
Continuum (Minneap Minn). 2019 Dec;25(6):1682-1695
pubmed: 31794466
Muscle Nerve Suppl. 1995;3:S75-81
pubmed: 7603532
Brain. 2018 Jan 1;141(1):72-84
pubmed: 29228183
Metab Brain Dis. 2019 Apr;34(2):495-503
pubmed: 30712135
Clin Chem. 2018 Dec;64(12):1772-1779
pubmed: 30201803
Exp Neurol. 2016 Sep;283(Pt A):375-395
pubmed: 27343803
Neuromuscul Disord. 2020 Dec;30(12):949-958
pubmed: 33250373
Lancet. 1983 May 21;1(8334):1151-5
pubmed: 6133167
Acta Haematol. 2020;143(4):322-334
pubmed: 32392555
Neurology. 2018 Feb 6;90(6):e518-e524
pubmed: 29321234
J Clin Neurosci. 2020 Aug;78:203-206
pubmed: 32336642
Brain. 2017 Dec 1;140(12):3112-3127
pubmed: 29126212
Biochem J. 1996 Jul 15;317 ( Pt 2):613-9
pubmed: 8713093
Sci Rep. 2018 Jun 26;8(1):9714
pubmed: 29946067
Orphanet J Rare Dis. 2020 Nov 23;15(1):328
pubmed: 33228797
Neuromuscul Disord. 2011 Aug;21(8):569-78
pubmed: 21724396
DNA Repair (Amst). 2004 Aug-Sep;3(8-9):1219-25
pubmed: 15279810
Ther Clin Risk Manag. 2020 Jun 22;16:551-558
pubmed: 32606714
J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):392-395
pubmed: 32098874
Biochim Biophys Acta. 2016 Oct;1863(10):2422-35
pubmed: 26828774
Eur Neurol. 2012;67(2):121-8
pubmed: 22262194
J Biol Chem. 1991 Apr 25;266(12):7779-83
pubmed: 2019602
Sleep. 2003 May 1;26(3):287-90
pubmed: 12749547
J Neurol. 2019 Feb;266(2):533-544
pubmed: 30284037
Lancet Neurol. 2007 Aug;6(8):687-92
pubmed: 17618834
Clin Genet. 2017 Jun;91(6):859-867
pubmed: 27714768
Acta Neurol Belg. 2018 Dec;118(4):567-572
pubmed: 29480456
Neuromuscul Disord. 2016 Jul;26(7):405-13
pubmed: 27185459
Proteomics Clin Appl. 2014 Apr;8(3-4):269-78
pubmed: 24458521
PLoS One. 2017 Jun 2;12(6):e0178376
pubmed: 28575008
J Korean Med Sci. 2002 Dec;17(6):856-60
pubmed: 12483017
BMC Urol. 2014 Nov 28;14:96
pubmed: 25430699
Neuromuscul Disord. 2010 Nov;20(11):693-700
pubmed: 20691590
Clin Physiol Funct Imaging. 2004 Mar;24(2):109-15
pubmed: 15056184
J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11
pubmed: 25783438
J Diabetes Complications. 2021 Jan;35(1):107584
pubmed: 32331977
Compr Physiol. 2015 Apr;5(2):761-90
pubmed: 25880512
Muscle Nerve. 2018 Apr;57(4):522-530
pubmed: 29125635
Curr Treat Options Neurol. 2018 Jul 21;20(9):36
pubmed: 30032336
Clin Chem. 1990 Mar;36(3):427-30
pubmed: 2311208
Muscle Nerve. 2004 Oct;30(4):410-22
pubmed: 15372536
J Med Genet. 2011 Oct;48(10):651-9
pubmed: 21856962
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2356-60
pubmed: 10051646
Neuromolecular Med. 2015 Sep;17(3):285-96
pubmed: 26007199
Neurol Clin. 2002 Aug;20(3):679-709
pubmed: 12432826
Biochim Biophys Acta. 2014 May;1841(5):811-25
pubmed: 24239767
Ann Clin Transl Neurol. 2019 Jan 24;6(2):243-251
pubmed: 30847357
Electromyogr Clin Neurophysiol. 2003 Apr-May;43(3):189-92
pubmed: 12712806
Sci Rep. 2018 Nov 12;8(1):16681
pubmed: 30420713
Handb Clin Neurol. 2019;162:449-481
pubmed: 31324325
Adv Clin Chem. 2019;90:1-23
pubmed: 31122607
Int J Neonatal Screen. 2020 Jun;6(2):
pubmed: 32373753
Neurotherapeutics. 2018 Oct;15(4):900-914
pubmed: 30338442
Atherosclerosis. 2017 Dec;267:110-115
pubmed: 29121498
Neurotherapeutics. 2018 Oct;15(4):885-899
pubmed: 30406384
Acta Biomed. 2018 Dec 17;89(9-S):22-32
pubmed: 30561392
Pediatr Neurol. 2010 May;42(5):365-8
pubmed: 20399394
PLoS One. 2016 Oct 12;11(10):e0164625
pubmed: 27732645
J Peripher Nerv Syst. 2019 Dec;24(4):314-319
pubmed: 31583784
Mol Ther Nucleic Acids. 2014 Jul 22;3:e177
pubmed: 25050825
Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851
pubmed: 27922496
JAMA Neurol. 2018 Apr 1;75(4):495-502
pubmed: 29356829
Proc Natl Acad Sci U S A. 2019 Oct 1;116(40):20097-20103
pubmed: 31527255
J Neurochem. 2009 Dec;111(5):1182-91
pubmed: 19765193
Adv Exp Med Biol. 2017;959:9-21
pubmed: 28755181
J Inherit Metab Dis. 2012 Jan;35(1):91-102
pubmed: 21748409
Ann Neurol. 1994 Jan;35(1):116-9
pubmed: 8285582
Curr Neurol Neurosci Rep. 2020 Oct 7;20(12):56
pubmed: 33026560
Sci Rep. 2019 Feb 14;9(1):2139
pubmed: 30765719
J Neurol Neurosurg Psychiatry. 2017 May;88(5):457-458
pubmed: 28188196
Mult Scler. 2012 May;18(5):552-6
pubmed: 22492131
Case Rep Genet. 2018 Aug 1;2018:6184185
pubmed: 30155320