Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.
Meige syndrome
blepharospasm
oromandibular dystonia
pathogenic gene
variants
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
24
11
2020
accepted:
08
03
2021
entrez:
15
4
2021
pubmed:
16
4
2021
medline:
16
4
2021
Statut:
epublish
Résumé
Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). The etiology and pathogenesis of this disorder of the extrapyramidal system are not well-understood. Neurologic and ophthalmic examinations often reveal no abnormalities, making diagnosis difficult and often resulting in misdiagnosis. A small proportion of patients have a family history of the disease, but to date no causative genes have been identified to date and no cure is available, although botulinum toxin A therapy effectively mitigates the symptoms and deep brain stimulation is gaining increasing attention as a viable alternative treatment option. Here we review the history and progress of research on MS, BSP, and OMD, as well as the etiology, pathology, diagnosis, and treatment.
Identifiants
pubmed: 33854473
doi: 10.3389/fneur.2021.630221
pmc: PMC8039296
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
630221Informations de copyright
Copyright © 2021 Ma, Qu, Ye, Shu and Qu.
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
Parkinsonism Relat Disord. 2013 Mar;19(3):404-5
pubmed: 23036512
Mov Disord. 2017 Apr;32(4):498-509
pubmed: 28186662
J Neurol. 2012 Feb;259(2):342-7
pubmed: 21800139
Mov Disord. 2020 Jul;35(7):1173-1180
pubmed: 32250472
Brain Res. 1998 Aug 24;803(1-2):161-8
pubmed: 9729360
Neurosurg Focus. 2010 Aug;29(2):E5
pubmed: 20672922
J Med Genet. 2010 Sep;47(9):646-50
pubmed: 19955557
J Neurol Sci. 2010 Jan 15;288(1-2):175-7
pubmed: 19883923
Neurosurgery. 2005 Feb;56(2):E415; discussion E415
pubmed: 15670394
Front Neurol. 2016 Mar 31;7:45
pubmed: 27064462
Mov Disord. 2005 Jan;20(1):26-33
pubmed: 15390039
J Neurol Neurosurg Psychiatry. 2020 Dec;91(12):1343-1348
pubmed: 33028603
J Neurol Neurosurg Psychiatry. 1988 Jun;51(6):767-72
pubmed: 3404184
Neurologia. 1993 Mar;8(3):127-8
pubmed: 8448045
Arch Neurol. 1981 Mar;38(3):147-51
pubmed: 7469847
Stereotact Funct Neurosurg. 2009;87(6):379-84
pubmed: 19844137
J Neurosci. 2006 Jan 11;26(2):716-21
pubmed: 16407569
Nat Genet. 2013 Jan;45(1):88-92
pubmed: 23222958
BMC Med Genet. 2009 Mar 11;10:24
pubmed: 19284587
Neuroscience. 2009 Nov 24;164(1):220-9
pubmed: 19162138
Hum Mol Genet. 1996 Oct;5(10):1673-7
pubmed: 8894706
Mol Genet Genomic Med. 2018 May 16;:
pubmed: 29770609
J Neural Transm (Vienna). 2008;115(4):585-91
pubmed: 17558461
Acta Neurol Scand. 2006 Jul;114(1):63-6
pubmed: 16774630
Neurosurgery. 2011 Dec;69(6):E1333-7
pubmed: 21712740
Neurology. 1980 Jul;30(7 Pt 1):690-5
pubmed: 7190236
Mov Disord. 2014 May;29(6):812-8
pubmed: 24500857
Mov Disord. 2005 Sep;20(9):1203-5
pubmed: 15954126
Nat Neurosci. 2006 Jun;9(6):735-7
pubmed: 16680163
Mol Genet Genomic Med. 2014 May;2(3):261-72
pubmed: 24936516
Mov Disord. 2003 Jan;18(1):94-100
pubmed: 12518306
Neurology. 2016 May 10;86(19):1818-26
pubmed: 27164716
J Neurol Neurosurg Psychiatry. 1976 Dec;39(12):1204-9
pubmed: 1011031
Neurology. 2002 Nov 12;59(9):1306-12
pubmed: 12434791
Clin Neurol Neurosurg. 2010 May;112(4):344-6
pubmed: 20061080
Brain. 1985 Sep;108 ( Pt 3):593-608
pubmed: 4041776
Acta Neurol (Napoli). 1992 Feb;14(1):56-9
pubmed: 1580205
Sci Rep. 2020 Sep 3;10(1):14533
pubmed: 32884000
Semin Ophthalmol. 2010 May;25(3):104-8
pubmed: 20590421
Mov Disord. 2013 Jun 15;28(7):968-81
pubmed: 23893453
Neuromodulation. 2016 Dec;19(8):818-823
pubmed: 26399458
Mov Disord. 2010 Aug 15;25(11):1756-8
pubmed: 20589876
Parkinsonism Relat Disord. 2011 Feb;17(2):123-5
pubmed: 21147544
Am J Hum Genet. 2007 Mar;80(3):393-406
pubmed: 17273961
Toxins (Basel). 2020 Apr 22;12(4):
pubmed: 32331272
Mov Disord. 2007 Oct 15;22(13):1885-91
pubmed: 17618522
IEEE Trans Biomed Eng. 2020 Nov;67(11):3094-3100
pubmed: 32091988
Chin Med J (Engl). 2016 Jul 5;129(13):1619-20
pubmed: 27364801
Acta Neurol Scand. 2003 Mar;107(3):228-32
pubmed: 12614318
Mov Disord. 2001 Jul;16(4):774-7
pubmed: 11481713
Shanghai Arch Psychiatry. 2016 Aug 25;28(4):222-226
pubmed: 28638194
J Neurol. 2011 Nov;258(11):2069-74
pubmed: 21553081
Clin Neurol Neurosurg. 2018 Aug;171:53-57
pubmed: 29807200
Ophthalmic Plast Reconstr Surg. 2001 Jul;17(4):276-80
pubmed: 11476178
J Mol Neurosci. 2020 Sep;70(9):1370-1375
pubmed: 32424513
Front Neurol. 2020 Nov 03;11:583177
pubmed: 33224096
J Fr Ophtalmol. 2021 Jan;44(1):e1-e12
pubmed: 33349487
Am J Ophthalmol. 1998 Sep;126(3):432-5
pubmed: 9744377
Neurology. 2000 Jan 11;54(1):130-5
pubmed: 10636138
Mov Disord. 2009 Mar 15;24(4):613-6
pubmed: 19202559
Adv Neurol. 1998;78:1-10
pubmed: 9750897
Neurosci Lett. 2017 Jan 10;637:31-37
pubmed: 27913194
Neurology. 2011 Feb 15;76(7):610-4
pubmed: 21321334
Otolaryngol Head Neck Surg. 2008 Oct;139(4):495-505
pubmed: 18922334
PLoS Genet. 2018 Jan 24;14(1):e1007169
pubmed: 29364887
J Mol Neurosci. 2019 Mar;67(3):472-476
pubmed: 30656493
J Neurol. 2008 Jun;255(6):881-4
pubmed: 18338193
Science. 1989 May 19;244(4906):790-5
pubmed: 2499043
Neurology. 2010 Jan 19;74(3):229-38
pubmed: 20083799
Mov Disord. 2007 Jan 15;22(2):162-6
pubmed: 17133500
J Neurol. 2013 Apr;260(4):1037-42
pubmed: 23180184
Brain Res Dev Brain Res. 2004 Aug 18;152(1):47-60
pubmed: 15283994
Mov Disord. 2011 Feb 15;26(3):549-52
pubmed: 21370264
Eur J Hum Genet. 2012 Feb;20(2):171-5
pubmed: 21847143
Eur J Neurol. 2011 Mar;18(3):382-6
pubmed: 20649903
J Neurol Sci. 2017 Dec 15;383:153-157
pubmed: 29246604
Mov Disord. 2018 Sep;33(9):1408
pubmed: 30216539
Neurology. 2011 Aug 16;77(7):631-7
pubmed: 21775731
Eur J Neurol. 2009 Aug;16(8):949-52
pubmed: 19473353
Mov Disord. 2003 Feb;18(2):207-12
pubmed: 12539217
Mov Disord. 2004 Dec;19(12):1518-21
pubmed: 15390069
Mov Disord. 2009 Sep 15;24(12):1829-35
pubmed: 19562774
Mov Disord. 2005 Dec;20(12):1564-70
pubmed: 16092106
J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):314-320
pubmed: 31848221
Mov Disord. 1992;7(1):90-1
pubmed: 1557074
Neuromodulation. 2021 Feb;24(2):293-299
pubmed: 32476223
JAMA Neurol. 2014 Apr;71(4):490-4
pubmed: 24535567
Parkinsonism Relat Disord. 2009 Aug;15(7):483-9
pubmed: 19457699
Lancet Neurol. 2009 May;8(5):441-6
pubmed: 19345147
Mov Disord. 2007 Oct 15;22(13):1958-62
pubmed: 17674409
BMC Med Genet. 2016 Dec 5;17(1):93
pubmed: 27919237
J Neurol. 2019 Nov;266(11):2646-2656
pubmed: 31302747
Clin Neurol Neurosurg. 2015 May;132:41-3
pubmed: 25764999
Mov Disord. 2011 Mar;26(4):691-8
pubmed: 21312284
J Neurol. 2000 Oct;247(10):787-92
pubmed: 11127535
Front Neurol. 2020 Jan 23;10:1387
pubmed: 32038460
Mol Biol Cell. 2009 Jun;20(11):2661-72
pubmed: 19339278
Curr Neuropharmacol. 2013 Jan;11(1):53-8
pubmed: 23814538
Parkinsonism Relat Disord. 2019 Jan;58:40-45
pubmed: 30217540
Nat Genet. 1997 Sep;17(1):40-8
pubmed: 9288096
BMJ Case Rep. 2016 Mar 31;2016:
pubmed: 27033410
Acta Neurol Scand. 2008 Sep;118(3):198-202
pubmed: 18336624
Neurology. 2008 Oct 14;71(16):1275-82
pubmed: 18852443
Blood. 2007 Jan 15;109(2):584-94
pubmed: 17003378
Nat Rev Dis Primers. 2018 Sep 20;4(1):25
pubmed: 30237473
J Dent (Shiraz). 2017 Jun;18(2):73-81
pubmed: 28620630
Neurology. 2002 Jan 8;58(1):124-6
pubmed: 11781417
Parkinsonism Relat Disord. 2015 Nov;21(11):1367-8
pubmed: 26365774
Mov Disord. 2014 Jul;29(8):1083-6
pubmed: 24925604
Mov Disord Clin Pract. 2016 Jan 05;3(4):409-411
pubmed: 30713932
Acta Neurol Scand. 2017 Aug;136(2):103-108
pubmed: 27808417
J Neurol. 2020 Jan;267(1):267-275
pubmed: 31630241
Parkinsonism Relat Disord. 2016 Feb;23:66-71
pubmed: 26725140
J Neurosurg. 2018 Jan 19;130(1):84-89
pubmed: 29350600
Mov Disord. 2008 Aug 15;23(11):1619-21
pubmed: 18581473
Ann Neurol. 1981 Feb;9(2):189-91
pubmed: 7235635
J Neurol Neurosurg Psychiatry. 1987 Nov;50(11):1522-5
pubmed: 3121795
J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):336-40
pubmed: 24963123
Brain Behav. 2017 Dec 18;8(1):e00894
pubmed: 29568690
Prog Neurobiol. 2019 Nov;182:101678
pubmed: 31404592
Am J Hum Genet. 2012 Dec 7;91(6):1041-50
pubmed: 23200863
Neurol Neurochir Pol. 2014;48(3):196-9
pubmed: 24981184
J Neurosurg. 2018 Mar;128(3):897-902
pubmed: 28548593
Eur J Neurol. 2017 Apr;24(4):552-560
pubmed: 28186378
J Neurol Sci. 2017 Jan 15;372:162-170
pubmed: 28017205
Eur Neurol. 1993;33(5):345-50
pubmed: 8243508
Neurol Sci. 2019 Jan;40(1):89-95
pubmed: 30269178
J Neurol Neurosurg Psychiatry. 1999 Nov;67(5):613-9
pubmed: 10519867
J Neurol Sci. 2011 Oct 15;309(1-2):63-7
pubmed: 21839475
Neurology. 2009 Dec 8;73(23):2031-6
pubmed: 19996078
Mov Disord. 2013 Jun 15;28(7):863-73
pubmed: 23649720
JAMA Neurol. 2015 Nov;72(11):1369
pubmed: 26415042
Neurology. 2013 Jul 16;81(3):236-40
pubmed: 23771487
Acta Neurol Belg. 2020 Aug;120(4):831-836
pubmed: 32594465
Parkinsonism Relat Disord. 2013 Nov;19(11):1043-5
pubmed: 23816543
Front Neurol. 2012 Apr 17;3:58
pubmed: 22529836
J Clin Neurophysiol. 2014 Dec;31(6):535-40
pubmed: 25462139
Neuromodulation. 2021 Feb;24(2):300-306
pubmed: 33159411
Kidney Int. 2020 Jun;97(6):1117-1129
pubmed: 32409237
J Mov Disord. 2014 Oct;7(2):92-4
pubmed: 25360233
J Neurosurg. 2019 Apr 05;132(5):1367-1375
pubmed: 30952124
Tremor Other Hyperkinet Mov (N Y). 2017 Jul 6;7:472
pubmed: 28975046
Br J Neurosurg. 2018 Dec;32(6):661-662
pubmed: 30526116
Brain. 2007 May;130(Pt 5):1183-93
pubmed: 17242025
Neurosurgery. 2010 Sep;67(3 Suppl Operative):onsE308; discussion onsE308
pubmed: 20729656
Neurology. 2000 May 9;54(9):1746-52
pubmed: 10802779
Mov Disord. 2012 Dec;27(14):1741-2
pubmed: 23283653
J Korean Neurosurg Soc. 2010 Aug;48(2):134-8
pubmed: 20856662
Medicina (B Aires). 2008;68(4):318-24
pubmed: 18786893