Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
genetics, myoclonus, ataxia, movement disorders, diagnosis
Journal
Movement disorders clinical practice
ISSN: 2330-1619
Titre abrégé: Mov Disord Clin Pract
Pays: United States
ID NLM: 101630279
Informations de publication
Date de publication:
Jan 2021
Jan 2021
Historique:
received:
23
04
2020
revised:
30
09
2020
accepted:
14
10
2020
entrez:
11
1
2021
pubmed:
12
1
2021
medline:
12
1
2021
Statut:
epublish
Résumé
A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis. To review the causes of MAS and to propose a diagnostic algorithm. A comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia. A total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas. Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.
Sections du résumé
BACKGROUND
BACKGROUND
A myriad of disorders combine myoclonus and ataxia. Most causes are genetic and an increasing number of genes are being associated with myoclonus-ataxia syndromes (MAS), due to recent advances in genetic techniques. A proper etiologic diagnosis of MAS is clinically relevant, given the consequences for genetic counseling, treatment, and prognosis.
OBJECTIVES
OBJECTIVE
To review the causes of MAS and to propose a diagnostic algorithm.
METHODS
METHODS
A comprehensive and structured literature search following PRISMA criteria was conducted to identify those disorders that may combine myoclonus with ataxia.
RESULTS
RESULTS
A total of 135 causes of combined myoclonus and ataxia were identified, of which 30 were charted as the main causes of MAS. These include four acquired entities: opsoclonus-myoclonus-ataxia syndrome, celiac disease, multiple system atrophy, and sporadic prion diseases. The distinction between progressive myoclonus epilepsy and progressive myoclonus ataxia poses one of the main diagnostic dilemmas.
CONCLUSIONS
CONCLUSIONS
Diagnostic algorithms for pediatric and adult patients, based on clinical manifestations including epilepsy, are proposed to guide the differential diagnosis and corresponding work-up of the most important and frequent causes of MAS. A list of genes associated with MAS to guide genetic testing strategies is provided. Priority should be given to diagnose or exclude acquired or treatable disorders.
Identifiants
pubmed: 33426154
doi: 10.1002/mdc3.13106
pii: MDC313106
pmc: PMC7780951
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
9-24Informations de copyright
© 2020 International Parkinson and Movement Disorder Society.
Déclaration de conflit d'intérêts
This work was generated within the European Reference Network for Rare Neurological Diseases ‐ Project ID No 739510. The authors have no conflicts to report.
Références
J Neurol. 2008 Mar;255(3):413-9
pubmed: 18297329
Parkinsonism Relat Disord. 2018 Jan;46:3-8
pubmed: 29249681
J Clin Diagn Res. 2015 Nov;9(11):OD07-8
pubmed: 26673942
J Neurol. 2012 Dec;259(12):2590-8
pubmed: 22638565
J Neurol Neurosurg Psychiatry. 1999 Nov;67(5):678-81
pubmed: 10519881
Mov Disord. 2014 Jan;29(1):158-9
pubmed: 24339182
Arch Neurol. 2011 Jun;68(6):812-3
pubmed: 21670406
Clin Genet. 2014 Dec;86(6):598-600
pubmed: 24620919
Mitochondrion. 2010 Aug;10(5):510-5
pubmed: 20580948
Indian J Pediatr. 2017 May;84(5):403-404
pubmed: 28138907
JAMA Neurol. 2016 Jul 1;73(7):888-90
pubmed: 27182963
Am J Hum Genet. 2011 May 13;88(5):566-73
pubmed: 21549341
Mov Disord. 2010 Dec 15;25(16):2818-27
pubmed: 20939057
J Neurol Neurosurg Psychiatry. 2001 Jun;70(6):802-5
pubmed: 11385020
Orphanet J Rare Dis. 2017 Mar 7;12(1):45
pubmed: 28264719
Am J Med Genet A. 2015 Oct;167A(10):2231-7
pubmed: 26079862
Am J Hum Genet. 2015 May 7;96(5):808-15
pubmed: 25865495
Neurology. 2004 Jul 27;63(2):329-34
pubmed: 15277629
Eur J Neurol. 2010 Jan;17(1):124-8
pubmed: 19659750
PLoS One. 2014 Oct 15;9(10):e109576
pubmed: 25333361
Can J Neurol Sci. 2006 May;33(2):243-5
pubmed: 16736740
Indian J Pathol Microbiol. 2011 Apr-Jun;54(2):374-5
pubmed: 21623095
Mov Disord. 2018 Aug;33(8):1372
pubmed: 30230625
Orphanet J Rare Dis. 2013 Oct 28;8:173
pubmed: 24164873
Eur J Med Genet. 2014 Nov-Dec;57(11-12):607-12
pubmed: 25270050
Dev Med Child Neurol. 2000 Apr;42(4):283-6
pubmed: 10795570
Neurology. 2005 Jan 11;64(1):142-4
pubmed: 15642921
J Neurol Neurosurg Psychiatry. 2006 Nov;77(11):1273-5
pubmed: 16835290
Eur J Paediatr Neurol. 2005;9(6):423-6
pubmed: 16269259
BMC Neurol. 2016 Nov 7;16(1):214
pubmed: 27821136
Ann Neurol. 2007 Jun;61(6):579-86
pubmed: 17455289
Neurology. 2001 Sep 25;57(6):1050-4
pubmed: 11571333
Tremor Other Hyperkinet Mov (N Y). 2015 Mar 13;5:298
pubmed: 25793145
Neurophysiol Clin. 2006 Sep-Dec;36(5-6):309-18
pubmed: 17336775
Acta Neuropathol. 2011 Jan;121(1):39-57
pubmed: 20593190
Mov Disord. 1997 Jul;12(4):519-30
pubmed: 9251070
Pediatr Neurol. 2012 Sep;47(3):205-8
pubmed: 22883287
Cerebellum. 2015 Jun;14(3):378-81
pubmed: 25592071
Eur J Neurol. 2015 Apr;22(4):610-7
pubmed: 25643588
Cerebellum. 2019 Jun;18(3):659-664
pubmed: 30635863
Mov Disord. 2004 Nov;19(11):1320-5
pubmed: 15390003
Epilepsia. 2014 Sep;55(9):e106-11
pubmed: 25060828
Neurology. 2000 Aug 22;55(4):517-22
pubmed: 10953183
Neurol Sci. 2016 Oct;37(10):1723-5
pubmed: 27329274
Neurology. 2014 Sep 16;83(12):1087-95
pubmed: 25122203
Seizure. 2018 Apr;57:80-86
pubmed: 29605618
J Neurol. 1999 Sep;246(9):835-9
pubmed: 10525984
Pediatr Neurol. 2011 Nov;45(5):319-23
pubmed: 22000312
Mov Disord. 2018 Jul;33(7):1099-1107
pubmed: 30153390
Clin Genet. 2013 Jun;83(6):571-5
pubmed: 22978711
Epilepsia. 2018 Feb;59(2):389-402
pubmed: 29315614
Am J Hum Genet. 2011 May 13;88(5):657-63
pubmed: 21549339
Seizure. 2009 Sep;18(7):492-7
pubmed: 19464195
Pediatr Neurol. 2002 Jan;26(1):51-4
pubmed: 11814736
Neurology. 2014 Jun 3;82(22):2003-6
pubmed: 24808020
J Neurol Neurosurg Psychiatry. 2017 Sep;88(9):764-772
pubmed: 28668775
Am J Med Genet A. 2018 Dec;176(12):2841-2845
pubmed: 30345727
Mov Disord. 2018 Jul;33(7):1119-1129
pubmed: 29603387
Metab Brain Dis. 2014 Mar;29(1):139-44
pubmed: 24338029
J Neurol. 2019 Jun;266(6):1541-1548
pubmed: 30483882
Epileptic Disord. 2017 Jun 1;19(2):147-151
pubmed: 28587997
Nature. 1997 Apr 24;386(6627):847-51
pubmed: 9126745
Epileptic Disord. 2016 Sep 1;18(S2):89-93
pubmed: 27621198
Hum Mol Genet. 2002 May 15;11(11):1263-71
pubmed: 12019207
Brain Pathol. 2009 Oct;19(4):727-30
pubmed: 19744044
Neurology. 2015 Jul 28;85(4):316-24
pubmed: 26115733
Seizure. 2012 Jul;21(6):482-5
pubmed: 22565067
Am J Hum Genet. 2007 Jul;81(1):136-46
pubmed: 17564970
Chin Med J (Engl). 2018 Jul 5;131(13):1575-1583
pubmed: 29941711
Neurology. 2018 Feb 20;90(8):e647-e657
pubmed: 29352095
Mov Disord. 1986;1(3):209-19
pubmed: 3504245
Neurology. 1994 Sep;44(9):1754-5
pubmed: 7936310
Epilepsy Res. 1999 Oct;37(1):3-11
pubmed: 10515170
Cerebellum Ataxias. 2014 Sep 01;1:11
pubmed: 26331035
Neurology. 1999 Jan 15;52(2):377-82
pubmed: 9932960
Am J Hum Genet. 2011 Aug 12;89(2):241-52
pubmed: 21820099
Brain Dev. 2015 Mar;37(3):362-5
pubmed: 24954719
Mov Disord. 2019 Nov;34(11):1602-1613
pubmed: 31584223
Brain. 1995 Oct;118 ( Pt 5):1087-93
pubmed: 7496772
Neurol India. 2010 Jul-Aug;58(4):514-22
pubmed: 20739785
Epilepsia. 2018 Sep;59(9):e135-e141
pubmed: 30132828
Arch Neurol. 2004 Jan;61(1):122-5
pubmed: 14732629
Mov Disord. 2004 Jun;19(6):622-9
pubmed: 15197699
Muscle Nerve. 1997 Mar;20(3):271-8
pubmed: 9052804
J Med Genet. 2016 Aug;53(8):511-22
pubmed: 26989088
J Inherit Metab Dis. 2016 Sep;39(5):713-723
pubmed: 27287710
Arch Neurol. 2003 Jun;60(6):858-63
pubmed: 12810491
PLoS Genet. 2011 Oct;7(10):e1002325
pubmed: 22022284
Arch Neurol. 1997 Sep;54(9):1073-80
pubmed: 9311350
Cerebellum. 2014 Feb;13(1):89-96
pubmed: 24030789
BMC Med Genet. 2015 Mar 19;16:16
pubmed: 25927548
Eur J Paediatr Neurol. 2015 Nov;19(6):726-9
pubmed: 26232052
Orphanet J Rare Dis. 2014 Apr 17;9:57
pubmed: 24742043
Handb Clin Neurol. 2018;148:441-464
pubmed: 29478593
Parkinsonism Relat Disord. 2013 Dec;19(12):1173-4
pubmed: 24120321
Arch Neurol. 2003 Dec;60(12):1749-51
pubmed: 14676051
Mov Disord. 2005 Dec;20(12):1633-6
pubmed: 16078202
Brain. 1995 Dec;118 ( Pt 6):1573-81
pubmed: 8595486
J Neurol Sci. 2015 Sep 15;356(1-2):65-71
pubmed: 26143525
Mov Disord Clin Pract. 2014 Jun 06;1(3):154-160
pubmed: 30363920
AJNR Am J Neuroradiol. 2011 Jan;32(1):109-14
pubmed: 20966051
Neurology. 2014 Jul 15;83(3):287-8
pubmed: 24928119
Epilepsy Behav Case Rep. 2013 Aug 16;1:118-21
pubmed: 25667843
Mov Disord Clin Pract. 2015 Jun 17;2(3):271-273
pubmed: 30363482
Epilepsia. 2010 Feb;51 Suppl 1:37-9
pubmed: 20331711
Medicine (Baltimore). 2017 Dec;96(49):e8951
pubmed: 29245265
Epilepsy Behav Case Rep. 2018 Mar 12;10:32-34
pubmed: 29977792
Mov Disord. 2006 Jan;21(1):116-8
pubmed: 16149096
Pediatr Neurol. 2016 Nov;64:77-79
pubmed: 27600546
Brain. 2006 Jul;129(Pt 7):1685-92
pubmed: 16638794
Parkinsonism Relat Disord. 2010 May;16(4):288-9
pubmed: 19913450
Neurology. 1997 Oct;49(4):1131-3
pubmed: 9339701
Hum Genet. 2005 Jun;117(1):88-91
pubmed: 15841389
Mov Disord. 2000 Jul;15(4):732-4
pubmed: 10928587
Mov Disord Clin Pract. 2018 Jul 03;5(4):373-382
pubmed: 30363394
Lancet. 1997 Sep 20;350(9081):865-6
pubmed: 9310612
J Neuropathol Exp Neurol. 2012 Feb;71(2):148-61
pubmed: 22249460
Ann Neurol. 2009 Oct;66(4):532-6
pubmed: 19847901
Eur Neurol. 2014;72(5-6):360-2
pubmed: 25322786
Epileptic Disord. 2016 Sep 1;18(S2):28-37
pubmed: 27582036
Mol Genet Metab. 2009 Aug;97(4):309-11
pubmed: 19454373
Eur J Neurol. 2009 Aug;16(8):912-9
pubmed: 19473359
J Korean Med Sci. 1999 Dec;14(6):659-64
pubmed: 10642945
Neuropediatrics. 2011 Oct;42(5):194-6
pubmed: 22006280
PLoS One. 2015 Oct 21;10(10):e0139552
pubmed: 26488179
Ann Neurol. 2000 Aug;48(2):156-63
pubmed: 10939565
J Neurol. 2016 May;263(5):961-972
pubmed: 26995359
Mov Disord. 1997 May;12(3):438-42
pubmed: 9159744
Intern Med. 2010;49(4):339-42
pubmed: 20154442
Int J Neurosci. 2017 Dec;127(12):1150-1153
pubmed: 28556688
Hong Kong Med J. 2004 Feb;10(1):53-6
pubmed: 14967857
Indian J Pediatr. 2013 Aug;80(8):694-6
pubmed: 23180398
Neuropathol Appl Neurobiol. 2005 Feb;31(1):80-7
pubmed: 15634234
Clin Neurophysiol. 2003 Jun;114(6):1041-52
pubmed: 12804673
Am J Hum Genet. 2011 Feb 11;88(2):138-49
pubmed: 21276947
Epilepsy Res. 2014 Nov;108(9):1501-10
pubmed: 25246353
Acta Neurol Belg. 2016 Mar;116(1):17-25
pubmed: 26104464
Neurology. 2003 Dec 9;61(11):1611-4
pubmed: 14663053
J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8
pubmed: 24218524
Epilepsia. 2006 May;47(5):860-6
pubmed: 16686650
Mov Disord. 2006 Jul;21(7):1025-8
pubmed: 16547918
Neurology. 2017 Oct 17;89(16):1691-1697
pubmed: 28931642
Neurology. 2005 Mar 22;64(6):982-6
pubmed: 15781812
Brain. 1994 Aug;117 ( Pt 4):835-45
pubmed: 7922469
J Neurol. 2012 Nov;259(11):2329-34
pubmed: 22527233
Epilepsia. 2011 Dec;52(12):2356-63
pubmed: 22050460
Prion. 2013 May-Jun;7(3):259-62
pubmed: 23764840
Mov Disord. 2012 Dec;27(14):1826-7
pubmed: 23225201
Mov Disord. 2018 Aug;33(8):1281-1286
pubmed: 30145808
Pediatr Neurol. 2011 Nov;45(5):311-8
pubmed: 22000311
Brain Dev. 2012 Oct;34(9):739-45
pubmed: 22245569
J Neurol. 2008 Apr;255(4):594-6
pubmed: 18231703
J Med Genet. 2006 Sep;43(9):e48
pubmed: 16950819
NPJ Genom Med. 2018 Jul 9;3:16
pubmed: 30002876
J Med Genet. 2012 Jun;49(6):391-9
pubmed: 22693283
Nat Genet. 2015 Jan;47(1):39-46
pubmed: 25401298
Neurosci Lett. 2005 Jun 24;381(3):247-51
pubmed: 15896478
Eur J Neurol. 2006 Feb;13(2):194-7
pubmed: 16490053
Mol Genet Metab Rep. 2018 Jan 12;15:11-14
pubmed: 30023283
J Neurol. 1989 Jul;236(5):307-8
pubmed: 2760650
Intern Med. 2013;52(1):119-24
pubmed: 23291686
Neurology. 1998 Jun;50(6):1887-90
pubmed: 9633753
Sleep Med. 2014 Mar;15(3):355-8
pubmed: 24518960
Hum Mol Genet. 2008 Jul 15;17(14):2238-43
pubmed: 18424452
Neuropathol Appl Neurobiol. 2014 Aug;40(5):551-63
pubmed: 23659519
J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):174-8
pubmed: 22036850
Cerebellum. 2012 Dec;11(4):1002-11
pubmed: 22528963
Genet Med. 2019 Jan;21(1):195-206
pubmed: 29915382
Neurology. 1999 Mar 23;52(5):1103-4
pubmed: 10102446
Neuropediatrics. 2013 Jun;44(3):127-41
pubmed: 23254568
Mov Disord. 2005 Apr;20(4):451-6
pubmed: 15593313
J Neurol Neurosurg Psychiatry. 1994 Mar;57(3):316-9
pubmed: 8158179
Brain Dev. 2018 May;40(5):429-432
pubmed: 29428275
Brain. 2005 Mar;128(Pt 3):652-8
pubmed: 15634728
Neurology. 2002 Apr 9;58(7):1122-4
pubmed: 11940708
Front Neurol. 2017 Sep 11;8:468
pubmed: 28959231
Medicine (Baltimore). 2018 Apr;97(15):e0299
pubmed: 29642155
Eur Neurol. 2002;47(4):222-3
pubmed: 12037436
Mov Disord. 2018 Jul;33(7):1056-1076
pubmed: 29756227
Seizure. 2019 Jul;69:133-139
pubmed: 31035234
Brain. 2009 Mar;132(Pt 3):810-9
pubmed: 19201763
J Neurol Sci. 2014 Apr 15;339(1-2):210-3
pubmed: 24485911
Mol Cytogenet. 2018 Aug 28;11:50
pubmed: 30181777
PLoS One. 2016 Jan 06;11(1):e0145500
pubmed: 26735972
Brain Dev. 2016 Oct;38(9):852-6
pubmed: 27165443
Mov Disord. 2007 May 15;22(7):1024-6
pubmed: 17343273
Neurocase. 2013;19(1):41-53
pubmed: 22494260
Neurology. 2004 Aug 24;63(4):727-9
pubmed: 15326254
Ann Neurol. 2017 May;81(5):677-689
pubmed: 28380698
Clin Neuropharmacol. 1992 Jun;15(3):186-228
pubmed: 1394242
Neurology. 2019 Jan 8;92(2):e96-e107
pubmed: 30541864
Brain. 2016 Dec;139(Pt 12):3109-3120
pubmed: 27742667
J Inherit Metab Dis. 2018 Nov;41(6):1275-1283
pubmed: 30167885
Neurosci Lett. 2016 Jan 12;611:112-5
pubmed: 26628246
Epilepsy Res. 2017 Feb;130:47-52
pubmed: 28126647
Brain. 2015 Nov;138(Pt 11):3386-99
pubmed: 26268531
Arch Neurol. 2004 Aug;61(8):1242-8
pubmed: 15313841
Epilepsia. 2008 Apr;49(4):549-56
pubmed: 18325013
J Cell Biochem. 2018 Jul;119(7):6258-6265
pubmed: 29663531
Muscle Nerve. 1994 Jan;17(1):52-7
pubmed: 8264702
Brain. 2019 Jan 1;142(1):59-69
pubmed: 30561534
Mov Disord. 2011 Apr;26(5):792-800
pubmed: 21370272
Brain. 2013 Apr;136(Pt 4):1146-54
pubmed: 23449775
Mol Genet Metab. 2011 May;103(1):101-3
pubmed: 21334936
Mov Disord. 2014 Jan;29(1):139-43
pubmed: 24458321
Epileptic Disord. 2016 Sep 1;18(S2):11-27
pubmed: 27702708