#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Multiple system atrophy


Authors: J. Klempíř 1,2,3;  T. Bartošová 1,2
Authors place of work: Neurologická klinika a Centrum klinických neurověd, 1. LF UK a VFN v Praze 1;  Anatomický ústav, 1. LF UK v Praze 2;  Evropská referenční síť pro vzácná neurologická onemocnění 3
Published in the journal: Cesk Slov Neurol N 2019; 82(4): 370-380
Category: Přehledný referát
doi: https://doi.org/10.14735/amcsnn2019370

Summary

Multiple system atrophy (MSA) is relatively rare neurodegenerative dis­ease with fatal prognosis af­fect­­ing middle-aged and elderly individuals. There is combination of several motor and non-motor symp­toms in MSA. Causal treatment does not exist and symp­tomatic treatment ef­fect is unsatisfactory. The article briefly discus­ses genetics and pathophysiology of MSA with special focus on the clinical picture, practical aspects of dia­gnostics and cur­rent therapeutic options of MSA in the Czech Republic.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Keywords:

multiple system atrophy – atypical parkinsonian syndrome – alpha synuclein – REM sleep behavioral disorders – autonomic dysfunction – orthostatic hypotension – inspiratory stridor


Zdroje

1. Vanacore N, Bonifati V, Fabbrini G et al. Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms. Neurol Sci 2001; 22(1): 97– 99.

2. Vanacore N. Epidemiological evidence on multiple system atrophy. J Neural Transm (Vien­na) 2005; 112(12): 1605– 1612. doi: 10.1007/ s00702-005-0380-7.

3. Wen­n­­ing GK, Geser F, Krismer F et al. The natural history of multiple system atrophy: a prospective European cohort study. Lancet Neurol 2013; 12(3): 264– 274. doi: 10.1016/ S1474-4422(12)70327-7.

4. Kol­lensperger M, Geser F, Ndayisaba JP et al. Presentation, dia­gnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry. Mov Disord 2010; 25(15): 2604– 2612. doi: 10.1002/ mds.23192.

5. Mensikova K, Tuckova L, Ehrmann J et al. Unusual phenotype of pathological­ly confirmed progres­sive supranuclear palsy with autonomic dysfunction and cerebel­lar ataxia: case report. Medicine (Baltimore) 2016; 95(46): e5237. doi: 10.1097/ MD.0000000000005
237.

6. Batla A, Stamelou M, Mensikova K et al. Markedly asym­metric presentation in multiple system atrophy. Parkinsonism Relat Disord 2013; 19(10): 901– 905. doi: 10.1016/ j.parkreldis.2013.05.004.

7. Mensikova K, Matej R, Tuckova L et al. Progres­sive supranuclear palsy phenotype mimick­­ing synucleinopathies. J Neurol Sci 2013; 329(1– 2): 34– 37. doi: 10.1016/ j.jns.2013.03.008.

8. Nus­sbaum RL. Genetics of synucleinopathies. Cold Spr­­ing Harb Perspect Med 2018; 8(6): pii: a024109. doi: 10.1101/ cshperspect.a024109.

9. Jel­linger KA. Neuropathology of multiple system atrophy: new thoughts about pathogenesis. Mov Disord 2014; 29(14): 1720– 1741. doi: 10.1002/ mds.26052.

10. Wong YC, Krainc D. Alpha-synuclein toxicity in neurodegeneration: mechanism and therapeutic strategies. Nat Med 2017; 23(2): 1– 13. doi: 10.1038/ nm.4269.

11. Valera E, Masliah E. The neuropathology of multiple system atrophy and its therapeutic implications. Auton Neurosci 2018; 211: 1– 6. doi: 10.1016/ j.autneu.2017.11.002.

12. Benar­roch EE. Brainstem in multiple system atrophy: clinicopathological cor­relations. Cell Mol Neurobio­l 2003; 23(4– 5): 519– 526.

13. Wen­n­­ing GK, Wagner S, Daniel S et al. Multiple system atrophy: sporadic or familial? Lancet 1993; 342(8872): 681. doi: 10.1016/ 0140-6736(93)91789-o.

14. Multiple-System Atrophy Research Col­laboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 2013; 369(3): 233– 244. doi: 10.1056/ NEJMoa1212115.

15. Monzio Compagnoni G, Kleiner G, Bordoni A et al. Mitochondrial dysfunction in fibroblasts of multiple system atrophy. Biochim Biophys Acta Mol Basis Dis 2018; 1864(12): 3588– 3597. doi: 10.1016/ j.bbadis.2018.09.018.

16. Du J, Wang T, Huang P et al. Clinical cor­relates of decreased plasma coenzyme Q10 levels in patients with multiple system atrophy. Parkinsonism Relat Disord 2018; 57: 58– 62. doi: 10.1016/ j.parkreldis.2018.07.017.

17. Sasaki H, Emi M, Iijima H et al. Copy number loss of (src homology 2 domain containing) –  transform­­ing protein 2 (SHC2) gene: discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. Mol Brain 2011; 4: 24. doi: 10.1186/ 1756-6606-
4-24.

18. Ferguson MC, Garland EM, Hedges L et al. SHC2 gene copy number in multiple system atrophy (MSA). Clin Auton Res 2014; 24(1): 25– 30. doi: 10.1007/ s10286-013-0216-8.

19. Scholz SW, Houlden H, Schulte C et al. SNCA variants are as­sociated with increased risk for multiple system atrophy. Ann Neurol 2009; 65(5): 610– 614. doi: 10.1002/ ana.21685.

20. Federoff M, Schottlaender LV, Houlden H et al. Multiple system atrophy: the application of genetics in understand­­ing etiology. Clin Auton Res 2015; 25(1): 19– 36. doi: 10.1007/ s10286-014-0267-5.

21. Sailer A, Scholz SW, Nal­ls MA et al. A genome-wide as­sociation study in multiple system atrophy. Neurology 2016; 87(15): 1591– 1598. doi: 10.1212/ WNL.0000000000003221.

22. Gu X, Chen Y, Zhou Q et al. Analysis of GWAS-linked variants in multiple system atrophy. Neurobio­l Ag­­ing 2018; 67: 201 e1– e4. doi: 10.1016/ j.neurobio­laging.2018.03.018.

23. Zhou X, Wang C, Chen Z et al. As­sociation of TNF-alpha rs1799964 and IL-1beta rs16944 polymorphisms with multiple system atrophy in Chinese Han popu­lation. Int J Neurosci 2018; 128(8): 761– 764. doi: 10.1080/ 00207454.2017.1418346.

24. Yuan X, Chen Y, Cao B et al. An as­sociation analy­sis of the R1628P and G2385R polymorphisms of the LRRK2 gene in multiple system atrophy in a Chinese population. Parkinsonism Relat Disord 2015; 21(2): 147– 149. doi: 10.1016/ j.parkreldis.2014.11.022.

25. Sklerov M, Kang UJ, Liong C et al. Frequency of GBA variants in autopsy-proven multiple system atrophy. Mov Disord Clin Pract 2017; 4(4): 574– 581. doi: 10.1002/ mdc3.12481.

26. Hama Y, Katsu M, Takigawa I et al. Genomic copy number variation analysis in multiple system atrophy. Mol Brain 2017; 10(1): 54. doi: 10.1186/ s13041-017-0335-6.

27. Geser F, Seppi K, Stampfer-Kountchev M et al. The European Multiple System Atrophy-Study Group (EMSA-SG). J Neural Transm (Vien­na) 2005; 112(12): 1677– 1686. doi: 10.1007/ s00702-005-0328-y.

28. Margraf NG, Wrede A, Deuschl G et al. Pathophysiological concepts and treatment of camptocormia. J Parkinsons Dis 2016; 6(3): 485– 501. doi: 10.3233/ JPD-160836.

29. Ashour R, Tintner R, Jankovic J. Striatal deformities of the hand and foot in Parkinson‘s dis­ease. Lancet Neurol 2005; 4(7): 423– 431. doi: 10.1016/ S1474-4422(05)70
119-8.

30. Steiger MJ, Pires M, Scaravil­li F et al. Hemibal­lism and chorea in a patient with parkinsonism due to a multisystem degeneration. Mov Disord 1992; 7(1): 71– 77. doi: 10.1002/ mds.870070115.

31. Salazar G, Val­ls-Sole J, Marti MJ et al. Postural and action myoclonus in patients with parkinsonian type multiple system atrophy. Mov Disord 2000; 15(1): 77– 83.

32. Chen R, Ashby P, Lang AE. Stimulus-sensitive myoclonus in akinetic-rigid syndromes. Brain 1992; 115 (Pt 6): 1875– 1888. doi: 10.1093/ brain/ 115.6.1875.

33. Anderson T, Luxon L, Quinn N et al. Oculomotor function in multiple system atrophy: clinical and laboratory features in 30 patients. Mov Disord 2008; 23(7): 977– 984. doi: 10.1002/ mds.21999.

34. Wen­n­­ing GK, Colosimo C, Geser F et al. Multiple system atrophy. Lancet Neurol 2004; 3(2): 93– 103.

35. Oertel WH, Wachter T, Quinn NP et al. Reduced geni­tal sensitivity in female patients with multiple system atrophy of parkinsonian type. Mov Disord 2003; 18(4): 430– 432. doi: 10.1002/ mds.10384.

36. Sakakibara R, Panicker J, Simeoni S et al. Bladder dysfunction as the initial presentation of multiple system atrophy: a prospective cohort study. Clin Auton Res 2018. [in pres­s]. doi: 10.1007/ s10286-018-0550-y.

37. Ito T, Sakakibara R, Yasuda K et al. Incomplete empty­­ing and urinary retention in multiple-system atrophy: when does it occur and how do we manage it? Mov Disord 2006; 21(6): 816– 823. doi: 10.1002/ mds.20815.

38. Roncevic D, Palma JA, Martinez J et al. Cerebel­lar and parkinsonian phenotypes in multiple system atrophy: similarities, dif­ferences and survival. J Neural Transm (Vien­na) 2014; 121(5): 507– 512. doi: 10.1007/ s00702-013-1133-7.

39. Low PA, Reich SG, Jankovic J et al. Natural history of multiple system atrophy in the USA: a prospective cohort study. Lancet Neurol 2015; 14(7): 710– 719. doi: 10.1016/ S1474-4422(15)00058-7.

40. Orimo S, Suzuki M, Inaba A et al. 123I-MIBG myocardial scintigraphy for dif­ferentiat­­ing Parkinson‘s dis­ease from other neurodegenerative parkinsonism: a systematic review and meta-analysis. Parkinsonism Relat Disord 2012; 18(5): 494– 500. doi: 10.1016/ j.parkreldis.2012.01.009.

41. Goldstein DS. Dysautonomia in Parkinson dis­ease. Compr Physiol 2014; 4(2): 805– 826. doi: 10.1002/ cphy.c130026.

42. Iodice V, Lipp A, Ahlskog JE et al. Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests. J Neurol Neurosurg Psychiatry 2012; 83(4): 453– 459. doi: 10.1136/ jn­np-2011-301068.

43. Moreno-Lopez C, Santamaria J, Salamero M et al. Exces­sive daytime sleepiness in multiple system atrophy (SLEEMSA study). Arch Neurol 2011; 68(2): 223– 230. doi: 10.1001/ archneurol.2010.359.

44. Cochen De Cock V. Sleep Abnormalities in MultipleSystem Atrophy. Curr Treat Options Neurol 2018; 20(6): 16. doi: 10.1007/ s11940-018-0503-8.

45. Ozawa T, Sekiya K, Aizawa N et al. Laryngeal stridor in multiple system atrophy: clinicopathological features and causal hypotheses. J Neurol Sci 2016; 361: 243– 249. doi: 10.1016/ j.jns.2016.01.007.

46. Ohshima Y, Nakayama H, Matsuyama N et al. Natural course and potential prognostic factors for sleep-disordered breath­­ing in multiple system atrophy. Sleep Med 2017; 34: 13– 17. doi: 10.1016/ j.sleep.2017.01.020.

47. Stankovic I, Krismer F, Jesic A et al. Cognitive impairment in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study group. Mov Disord 2014; 29(7): 857– 867. doi: 10.1002/ mds.25
880.

48. Gerstenecker A. The neuropsychology (broadly conceived) of multiple system atrophy, progres­sive supranuclear palsy, and corticobasal degeneration. Arch Clin Neuropsychol 2017; 32(7): 861– 875. doi: 10.1093/ arclin/ acx093.

49. Brown RG, Lacomblez L, Landwehrmeyer BG et al. Cognitive impairment in patients with multiple system atrophy and progres­sive supranuclear palsy. Brain 2010; 133 (Pt 8): 2382– 2393. doi: 10.1093/ brain/ awq158.

50. Kao AW, Racine CA, Quitania LC et al. Cognitive and neuropsychiatric profile of the synucleinopathies: Parkinson dis­ease, dementia with Lewy bodies, and multiple system atrophy. Alzheimer Dis As­soc Disord 2009; 23(4): 365– 370. doi: 10.1097/ WAD.0b013e3181b5065d.

51. Kol­lensperger M, Geser F, Seppi K et al. Red flags for multiple system atrophy. Mov Disord 2008; 23(8): 1093– 1099. doi: 10.1002/ mds.21992.

52. Tison F, Wen­n­­ing GK, Volonte MA et al. Pain in multiple system atrophy. J Neurol 1996; 243(2): 153– 156.

53. Schrag A, Sheikh S, Quinn NP et al. A comparison of depres­sion, anxiety, and health status in patients with progres­sive supranuclear palsy and multiple system atrophy. Mov Disord 2010; 25(8): 1077– 1081. doi: 10.1002/ mds.22794.

54. Katzenschlager R, Lees AJ. Olfaction and Parkinson‘s syndromes: its role in dif­ferential dia­gnosis. Curr Opin Neurol 2004; 17(4): 417– 423.

55. Gilman S, Wen­n­­ing GK, Low PA et al. Second consensus statement on the dia­gnosis of multiple system atrophy. Neurology 2008; 71(9): 670– 676. doi: 10.1212/ 01.wnl.0000324625.00404.15.

56. Koga S, Aoki N, Uitti RJ et al. When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients. Neurology 2015; 85(5): 404– 412. doi: 10.1212/ WNL. 0000000000001807.

57. Singer W, Berini SE, Sandroni P et al. Pure autonomic failure: predictors of conversion to clinical CNS involvement. Neurology 2017; 88(12): 1129– 1136. doi: 10.1212/ WNL.0000000000003737.

58. Kaufmann H, Norclif­fe-Kaufmann L, Palma JA et al. Natural history of pure autonomic failure: a United States prospective cohort. Ann Neurol 2017; 81(2): 287– 297. doi: 10.1002/ ana.24877.

59. Shimohata T, Aizawa N, Nakayama H et al. Mechanisms and prevention of sudden death in multiple system atrophy. Parkinsonism Relat Disord 2016; 30: 1– 6. doi: 10.1016/ j.parkreldis.2016.04.011.

60. Batla A, De Pablo-Fernandez E, Er­ro R et al. Young--onset multiple system atrophy: Clinical and pathologi­cal features. Mov Disord 2018; 33(7): 1099– 1107. doi: 10.1002/ mds.27450.

61. Calandra-Buonaura G, Guaraldi P, Sambati L et al. Multiple system atrophy with prolonged survival: is late onset of dysautonomia the clue? Neurol Sci 2013; 34(10): 1875– 1878. doi: 10.1007/ s10072-013-1470-1.

62. Petrovic IN, L­­ing H, Asi Y et al. Multiple system atrophy-parkinsonism with slow progres­sion and prolonged survival: a dia­gnostic catch. Mov Disord 2012; 27(9): 1186– 1190. doi: 10.1002/ mds.25115.

63. Fanciul­li A, Wen­n­­ing GK. Multiple-system atrophy. N Engl J Med 2015; 372(3): 249– 263. doi: 10.1056/ NEJMra1311488.

64. Chelban V, Bocchetta M, Has­sanein S et al. An update on advances in magnetic resonance imag­­ing of multiple system atrophy. J Neurol 2019; 266(4): 1036– 1045. doi: 10.1007/ s00415-018-9121-3.

65. Burk K, Skalej M, Dichgans J. Pontine MRI hyperintensities („the cross sign“) are not pathognomonic for multiple system atrophy (MSA). Mov Disord 2001; 16(3): 535.

66. Brooks DJ, Seppi K, Neuroimag­­ing Work­­ing Group on MSA. Proposed neuroimag­­ing criteria for the dia­g­nosis of multiple system atrophy. Mov Disord 2009; 24(7): 949– 964. doi: 10.1002/ mds.22413.

67. Bajaj S, Krismer F, Palma JA et al. Dif­fusion-weighted MRI distinguishes Parkinson dis­ease from the parkinsonian variant of multiple system atrophy: a systematic review and meta-analysis. PLoS One 2017; 12(12): e0189897. doi: 10.1371/ journal.pone.0189897.

68. Paviour DC, Thornton JS, Lees AJ et al. Dif­fusion-weighted magnetic resonance imag­­ing dif­ferentiates Parkinsonian variant of multiple-system atrophy from progres­sive supranuclear palsy. Mov Disord 2007; 22(1): 68– 74. doi: 10.1002/ mds.21204.

69. Tang CC, Poston KL, Eckert T et al. Dif­ferential dia­g­nosis of parkinsonism: a metabolic imag­­ing study us­­ing pattern analysis. Lancet Neurol 2010; 9(2): 149– 158. doi: 10.1016/ S1474-4422(10)70002-8.

70. Walter U, Dres­sler D, Probst T et al. Transcranial brain sonography findings in discriminat­­ing between parkinsonism and idiopathic Parkinson dis­ease. Arch Neurol 2007; 64(11): 1635– 1640. doi: 10.1001/ archneur.64.11.1635.

71. Bouwmans AE, Vlaar AM, Srulijes K et al. Transcranial sonography for the discrimination of idiopathic Parkinson‘s dis­ease from the atypical parkinsonian syndromes. Int Rev Neurobio­l 2010; 90: 121– 146. doi: 10.1016/ S0074-7742(10)90009-3.

72. Hel­lwig S, Reinhard M, Amtage F et al. Transcranial sonography and [18F]fluorodeoxyglucose positron emis­sion tomography for the dif­ferential dia­gnosis of parkinsonism: a head-to-head comparison. Eur J Neurol 2014; 21(6): 860– 866. doi: 10.1111/ ene.12394.

73. Deguchi K, Ikeda K, Sasaki I et al. Ef­fects of daily water drink­­ing on orthostatic and postprandial hypotension in patients with multiple system atrophy. J Neurol 2007; 254(6): 735– 740. doi: 10.1007/ s00415-006-0425-3.

74. Mathias CJ, Young TM. Water drink­­ing in the management of orthostatic intolerance due to orthostatic hypotension, vasovagal syncope and the postural tachy­cardia syndrome. Eur J Neurol 2004; 11(9): 613– 619. doi: 10.1111/ j.1468-1331.2004.00840.x.

75. Palma JA. Autonomic dysfunction in Parkinson‘s dis­ease and other synucleinopathies: Introduction to the series. Mov Disord 2018; 33(3): 347– 348. doi: 10.1002/ mds.27347.

76. European Reference Network on Rare Neurological Dis­eases. [online]. Available from URL: http: / / www.ern-rnd.eu/ .

77. European Multisystem Atrophy Study Group. [online]. Available from URL: http: / / www.emsa-sg.org/ .

Štítky
Dětská neurologie Neurochirurgie Neurologie
Článek Editorial

Článek vyšel v časopise

Česká a slovenská neurologie a neurochirurgie

Číslo 4

2019 Číslo 4

Nejčtenější v tomto čísle
Přihlášení
Zapomenuté heslo

Zadejte e-mailovou adresu, se kterou jste vytvářel(a) účet, budou Vám na ni zaslány informace k nastavení nového hesla.

Přihlášení

Nemáte účet?  Registrujte se

#ADS_BOTTOM_SCRIPTS#