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 NeurologieČlánek vyšel v časopise
Česká a slovenská neurologie a neurochirurgie
2019 Číslo 4
- Metamizol jako analgetikum první volby: kdy, pro koho, jak a proč?
- Nejčastější nežádoucí účinky venlafaxinu během terapie odeznívají
- Pregabalin je účinné léčivo s příznivým bezpečnostním profilem pro pacienty s neuropatickou bolestí
- Moje zkušenosti s Magnosolvem podávaným pacientům jako profylaxe migrény a u pacientů s diagnostikovanou spazmofilní tetanií i při normomagnezémii - MUDr. Dana Pecharová, neurolog
Nejčtenější v tomto čísle
- Multisystémová atrofie
- Dehiscence horního polokruhovitého kanálku
- Spina bifida v České republice – incidence a prenatální diagnostika
- Postižení sluchu po spinální anestezii