[1]Wenning GK, Stankovic I, Vignatelli L, et al. The movement disorder society criteria for the diagnosis of multiple system atrophy[J]. Mov Disord, 2022, 37(6): 1131-1148. DOI: 10.1002/mds.29005.
[2] Graham JG, Oppenheimer DR. Orthostatic hypotension and nicotine sensitivity in a case of multiple system atrophy[J]. J Neurol Neurosurg Psychiatry, 1969, 32(1): 28-34. DOI: 10.1136/jnnp.32.1.28.
[3] Consensus statement on the definition of orthostatic hypotension, pure autonomic failure, and multiple system atrophy. The Consensus Committee of the American Autonomic Society and the American Academy of Neurology[J]. Neurology, 1996, 46(5): 1470. DOI: 10.1212/ wnl.46.5.1470.
[4] Gilman S, Low PA, Quinn N, et al. Consensus statement on the diagnosis of multiple system atrophy[J]. J Neurol Sci, 1999, 163(1): 94-98. DOI: 10.1016/s0022-510x(98) 00304-9.
[5] Gilman S, Wenning GK, Low PA, et al. Second consensus statement on the diagnosis of multiple system atrophy[J]. Neurology, 2008, 71(9): 670-676. DOI: 10.1212/01. wnl.0000324625.00404.15.
[6] 唐北沙, 陈生弟, 中华医学会神经病学分会帕金森病及运 动障碍学组, 等. 多系统萎缩诊断标准中国专家共识[J]. 中 华 老 年 医 学 杂 志 , 2017, 36(10): 1055-1060. DOI: 10.3760/cma.j.issn.0254-9026.2017.10.001. Tang BS, Chen SD, Group of Parkinson's Disease and Movement Disorder of Neurology Branch of Chinese Medical Association, et al. Expert consensus on dignosis criteria for multiple system atrophy in China[J]. Chin J Geriat, 2017, 36(10): 1055-1060. DOI: 10.3760/cma. j. issn.0254-9026.2017.10.001.
[7] Schrag A, Ben-Shlomo Y, Quinn NP. Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study[J]. Lancet, 1999, 354(9192): 1771-1775. DOI: 10.1016/s0140-6736(99) 04137-9.
[8] Tison F, Yekhlef F, Chrysostome V, et al. Prevalence of multiple system atrophy[J]. Lancet, 2000, 355(9202): 495-496. DOI: 10.1016/s0140-6736(00)82050-4.
[9] Bower JH, Maraganore DM, McDonnell SK, et al. Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted County, Minnesota, 1976 to 1990[J]. Neurology, 1997, 49(5): 1284-1288. DOI: 10.1212/ wnl.49.5.1284.
[10] 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[J]. Mol Brain, 2011, 4: 24. DOI: 10.1186/1756-6606-4-24.
[11] Mutations in COQ2 in familial and sporadic multiple- system atrophy[J]. N Engl J Med, 2013, 369(3): 233-244. DOI: 10.1056/NEJMoa1212115.
[12] Scholz SW, Houlden H, Schulte C, et al. SNCA variants are associated with increased risk for multiple system atrophy[J]. Ann Neurol, 2009, 65(5): 610-614. DOI: 10.1002/ana.21685.
[13] Benarroch EE. Multiple system atrophy: a disorder targeting the brainstem control of survival[J]. Clin Auton Res, 2019, 29(6): 549-551. DOI: 10.1007/s10286-019- 00643-7.
[14] Ahmed Z, Asi YT, Sailer A, et al. The neuropathology, pathophysiology and genetics of multiple system atrophy [J]. Neuropathol Appl Neurobiol, 2012, 38(1): 4-24. DOI: 10.1111/j.1365-2990.2011.01234.x.
[15] Wenning GK, Geser F, Krismer F, et al. The natural history of multiple system atrophy: a prospective European cohort study[J]. Lancet Neurol, 2013, 12(3): 264-274. DOI: 10.1016/S1474-4422(12)70327-7.
[16] Coon EA, Sletten DM, Suarez MD, et al. Clinical features and autonomic testing predict survival in multiple system atrophy[J]. Brain, 2015, 138(Pt 12): 3623-3631. DOI: 10.1093/brain/awv274.
[17] Wenning GK, Ben Shlomo Y, Magalhães M, et al. Clinical features and natural history of multiple system atrophy. An analysis of 100 cases[J]. Brain, 1994, 117 (Pt 4): 835-845. DOI: 10.1093/brain/117.4.835.
[18] Jecmenica-Lukic M, Poewe W, Tolosa E, et al. Premotor signs and symptoms of multiple system atrophy[J]. Lancet Neurol, 2012, 11(4): 361-368. DOI: 10.1016/S1474- 4422(12)70022-4.
[19] Klockgether T, Lüdtke R, Kramer B, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients[J]. Brain, 1998, 121 (Pt 4): 589-600. DOI: 10.1093/brain/121.4.589.
[20] Watanabe H, Saito Y, Terao S, et al. Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients[J]. Brain, 2002, 125(Pt 5): 1070-1083. DOI: 10.1093/brain/awf117.
[21] Fanciulli A, Wenning GK. Multiple-system atrophy[J]. N Engl J Med, 2015, 372(3): 249-263. DOI: 10.1056/ NEJMra1311488.
[22] Low PA, Reich SG, Jankovic J, et al. Natural history of multiple system atrophy in the USA: a prospective cohort study[J]. Lancet Neurol, 2015, 14(7): 710-719. DOI: 10.1016/S1474-4422(15)00058-7.
[23] Zhang L, Cao B, Zou Y, et al. Causes of death in Chinese patients with multiple system atrophy[J]. Aging Dis, 2018, 9(1): 102-108. DOI: 10.14336/AD.2017.0711.
[24] Zhang L, Cao B, Hou Y, et al. High neutrophil-to-lymphocyte ratio predicts short survival in multiple system atrophy[J].NPJ Parkinsons Dis, 2022, 8(1): 11. DOI: 10.1038/s41531- 021-00267-7.
[25] Sakakibara R, Panicker J, Simeoni S, et al. Bladder dysfunction as the initial presentation of multiple system atrophy: a prospective cohort study[J]. Clin Auton Res, 2019, 29(6): 627-631. DOI: 10.1007/s10286-018-0550-y.
[26] Uchiyama T, Sakakibara R, Yamamoto T, et al. Urinary dysfunction in early and untreated Parkinson's disease[J]. J Neurol Neurosurg Psychiatry, 2011, 82(12): 1382-1386. DOI: 10.1136/jnnp.2011.241075.
[27] Fanciulli A, Goebel G, Lazzeri G, et al. Urinary retention discriminates multiple system atrophy from Parkinson's disease[J]. Mov Disord, 2019, 34(12): 1926-1928. DOI: 10.1002/mds.27917.
[28] Freeman R. Clinical practice. Neurogenic orthostatic hypotension[J]. N Engl J Med, 2008, 358(6): 615-624. DOI: 10.1056/NEJMcp074189.
[29] Goldstein DS, Pechnik S, Holmes C, et al. Association between supine hypertension and orthostatic hypotension in autonomic failure[J]. Hypertension, 2003, 42(2): 136-142. DOI: 10.1161/01.HYP.0000081216. 11623.C3.
[30] Ozawa T, Sekiya K, Aizawa N, et al. Laryngeal stridor in multiple system atrophy: Clinicopathological features and causal hypotheses[J]. J Neurol Sci, 2016, 361: 243-249. DOI: 10.1016/j.jns.2016.01.007.
[31] Miki Y, Foti SC, Asi YT, et al. Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study[J]. Brain, 2019, 142(9): 2813-2827. DOI: 10.1093/brain/awz189.
[32] Köllensperger M, Geser F, Seppi K, et al. Red flags for multiple system atrophy[J]. Mov Disord, 2008, 23(8): 1093-1099. DOI: 10.1002/mds.21992.
[33] Cortelli P, Calandra-Buonaura G, Benarroch EE, et al. Stridor in multiple system atrophy: consensus statement on diagnosis, prognosis, and treatment[J]. Neurology, 2019,93(14):630-639.DOI:10.1212/WNL.0000000000008208.
[34] 黎彬如, 李先红, 刘军. 多系统萎缩患者的睡眠障碍研究进 展[J]. 中华神经科杂志, 2021, 54(11): 1194-1198. DOI: 10.3760/cma.j.cn113694-20210315-00189. Li BR, Li XH, Liu J. Progress in sleep disorders in multiple system atrophy[J]. Chin J Neurol, 2021, 54(11): 1194-1198. DOI: 10.3760/cma.j.cn113694-20210315- 00189.
[35] American Academy of Sleep Medicine. International classification of sleep disorders[M]. 3rd ed. Westchester: American Academy of Sleep Medicine, 2014.
[36] Luppi PH, Clément O, Sapin E, et al. The neuronal network responsible for paradoxical sleep and its dysfunctions causing narcolepsy and rapid eye movement (REM) behavior disorder[J]. Sleep Med Rev, 2011, 15(3): 153-163. DOI: 10.1016/j.smrv.2010.08.002.
[37] Boeve BF, Silber MH, Ferman TJ, et al. Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder[J]. Sleep Med, 2013, 14(8): 754-762. DOI: 10.1016/j.sleep.2012.10.015.
[38] Benarroch EE. Brainstem respiratory control: substrates of respiratory failure of multiple system atrophy[J]. Mov Disord, 2007, 22(2): 155-161. DOI: 10.1002/mds.21236.
[39] Munschauer FE, Loh L, Bannister R, et al. Abnormal respiration and sudden death during sleep in multiple system atrophy with autonomic failure[J]. Neurology1990, 40(4): 677-679. DOI: 10.1212/wnl.40.4.677.
[40] Shimohata T, Ozawa T, Nakayama H, et al. Frequency of nocturnal sudden death in patients with multiple system atrophy[J]. J Neurol, 2008, 255(10): 1483-1485. DOI: 10.1007/s00415-008-0941-4.
[41] Stankovic I, Fanciulli A, Kostic VS, et al. Laboratory- supported multiple system atrophy beyond autonomic function testing and imaging: a systematic review by the MoDiMSA study group[J]. Mov Disord Clin Pract, 2021, 8(3): 322-340. DOI: 10.1002/mdc3.13158.
[42] Parreira S, Antunes F, Coelho M, et al. Sighs during sleep in multiple system atrophy[J]. Sleep Med, 2021, 78: 75-80. DOI: 10.1016/j.sleep.2020.12.013.
[43] Klein C, Brown R, Wenning G, et al. The "cold hands sign" in multiple system atrophy[J]. Mov Disord, 1997, 12(4): 514-518. DOI: 10.1002/mds.870120407.
[44] Kirchhof K, Apostolidis AN, Mathias CJ, et al. Erectile and urinary dysfunction may be the presenting features in patients with multiple system atrophy: a retrospective study[J]. Int J Impot Res, 2003, 15(4): 293-298. DOI: 10.1038/sj.ijir.3901014.
[45] 王雪梅, 刘疏影, 陈彪. 多系统萎缩患者非运动症状临床研 究进展[J]. 中华神经科杂志, 2020, 53(6): 460-464. DOI: 10.3760/cma.j.cn113694-20191220-00800. Wang XM, Liu SY, Chen B. Clinical diagnosis and treatment of non-motor symptoms of multiple system atrophy[J]. Chin J Neurol, 2020, 53(6): 460-464. DOI: 10.3760/cma.j. cn113694-20191220-00800.
[46] Shiri R, Koskimäki J, Häkkinen J, et al. Effects of age, comorbidity and lifestyle factors on erectile function: tampere ageing male urological study (TAMUS) [J]. Eur Urol, 2004, 45(5): 628-633. DOI: 10.1016/j. eururo.2003. 11.020.
[47] Parvizi J, Joseph J, Press DZ, et al. Pathological laughter and crying in patients with multiple system atrophy-cerebellar type[J]. Mov Disord, 2007, 22(6): 798-803. DOI: 10.1002/mds.21348.
[48] Coon EA, Fealey RD, Sletten DM, et al. Anhidrosis in multiple system atrophy involves pre-and postganglionic sudomotor dysfunction[J]. Mov Disord, 2017, 32(3): 397-404. DOI: 10.1002/mds.26864.
[49] Kim SD, Allen NE, Canning CG, et al. Postural instability in patients with Parkinson's disease. Epidemiology, pathophysiology and management[J]. CNS Drugs, 2013, 27(2): 97-112. DOI: 10.1007/s40263-012-0012-3.
[50] Respondek G, Kurz C, Arzberger T, et al. Which ante mortem clinical features predict progressive supranuclear palsy pathology? [J]. Mov Disord, 2017, 32(7): 995-1005. DOI: 10.1002/mds.27034.
[51] Wenning GK, Ebersbach G, Verny M, et al. Progression of falls in postmortem-confirmed parkinsonian disorders[J]. Mov Disord, 1999, 14(6): 947-950. DOI: 10.1002/1531- 8257(199911)14∶6<947::aid-mds1006>3.0.co;2-o.
[52] Crouse JJ, Phillips JR, Jahanshahi M, et al. Postural instability and falls in Parkinson's disease[J]. Rev Neurosci, 2016, 27(5): 549-555. DOI: 10.1515/revneuro-2016-0002.
[53] Kompoliti K, Goetz CG, Boeve BF, et al. Clinical presentation and pharmacological therapy in corticobasal degeneration[J]. Arch Neurol, 1998, 55(7): 957-961. DOI: 10.1001/archneur.55.7.957.
[54] Ouchi H, Toyoshima Y, Tada M, et al. Pathology andsensitivity of current clinical criteria in corticobasal syndrome[J]. Mov Disord, 2014, 29(2): 238-244. DOI: 10.1002/mds.25746.
[55] Zhang L, Cao B, Zou Y, et al. Prevalence of and factors associated with postural deformities in Chinese patients with multiple system atrophy[J]. Parkinsonism Relat Disord, 2019, 64: 324-327. DOI: 10.1016/j.parkreldis.2019.03.024.
[56] Doherty KM, van de Warrenburg BP, Peralta MC, et al. Postural deformities in Parkinson's disease[J]. Lancet Neurol, 2011, 10(6): 538-549. DOI: 10.1016/S1474-4422(11)70067-9.
[57] Zhu S, Deng B, Huang Z, et al. "Hot cross bun" is a potential imaging marker for the severity of cerebellar ataxia in MSA-C[J]. NPJ Parkinsons Dis, 2021, 7(1): 15. DOI: 10.1038/s41531-021-00159-w.
[58] Pellecchia MT, Stankovic I, Fanciulli A, et al. Can autonomic testing and imaging contribute to the early diagnosis of multiple system atrophy? A systematic review and recommendations by the Movement Disorder Society Multiple System Atrophy Study Group[J]. Mov Disord Clin Pract, 2020, 7(7): 750-762. DOI: 10.1002/ mdc3.13052.
[59] Nocker M, Seppi K, Boesch S, et al. Topography of dopamine transporter availability in the cerebellar variant of multiple system atrophy[J]. Mov Disord Clin Pract, 2017, 4(3): 389-396. DOI: 10.1002/mdc3.12446.
[60] Varrone A, Marek KL, Jennings D, et al. [(123)I]beta-CIT SPECT imaging demonstrates reduced density of striatal dopamine transporters in Parkinson's disease and multiple system atrophy[J]. Mov Disord, 2001, 16(6): 1023-1032. DOI: 10.1002/mds.1256.
[61] Kim YJ, Ichise M, Ballinger JR, et al. Combination of dopamine transporter and D2 receptor SPECT in the diagnostic evaluation of PD, MSA, and PSP[J]. Mov Disord, 2002, 17(2): 303-312. DOI: 10.1002/mds.10042.
[62] Oh M, Kim JS, Kim JY, et al. Subregional patterns of preferential striatal dopamine transporter loss differ in Parkinson disease, progressive supranuclear palsy, and multiple-system atrophy[J]. J Nucl Med, 2012, 53(3): 399-406. DOI: 10.2967/jnumed.111.095224.
[63] Zhao Y, Wu P, Wu J, et al. Decoding the dopamine transporter imaging for the differential diagnosis of parkinsonism using deep learning[J]. Eur J Nucl Med Mol Imaging, 2022, 49(8): 2798-2811. DOI: 10.1007/s00259- 022-05804-x.
[64] Schreckenberger M, Hägele S, Siessmeier T, et al. The dopamine D2 receptor ligand 18F-desmethoxyfallypride: an appropriate fluorinated PET tracer for the differential diagnosis of parkinsonism[J]. Eur J Nucl Med Mol Imaging, 2004, 31(8): 1128-1135. DOI: 10.1007/s00259- 004-1465-5.
[65] la Fougère C, Pöpperl G, Levin J, et al. The value of the dopamine D2/3 receptor ligand 18F-desmethoxyfallypride for the differentiation of idiopathic and nonidiopathic parkinsonian syndromes[J]. J Nucl Med, 2010, 51(4): 581-587. DOI: 10.2967/jnumed.109.071811.
[66] Zhou HY, Huang P, Sun Q, et al. The role of substantia nigra sonography in the differentiation of Parkinson's disease and multiple system atrophy[J]. Transl Neurodegener,2018,7:15.DOI:10.1186/s40035-018-0121-0.
[67] Shafieesabet A, Fereshtehnejad SM, Shafieesabet A, et al. Hyperechogenicity of substantia nigra for differentialdiagnosis of Parkinson's disease: a meta-analysis[J]. Parkinsonism Relat Disord, 2017, 42: 1-11. DOI: 10.1016/ j.parkreldis.2017.06.006.
[68] Kim KJ, Jeong SJ, Kim JM. Neurogenic bladder in progressive supranuclear palsy: a comparison with Parkinson's disease and multiple system atrophy[J]. Neurourol Urodyn, 2018, 37(5): 1724-1730. DOI: 10.1002/ nau.23496.
[69] Shin JH, Park KW, Heo KO, et al. Urodynamic study for distinguishing multiple system atrophy from Parkinson disease[J]. Neurology, 2019, 93(10): e946-e953. DOI: 10.1212/WNL.0000000000008053.
[70] Stoffel JT. Detrusor sphincter dyssynergia: a review of physiology, diagnosis, and treatment strategies[J]. Transl Androl Urol, 2016, 5(1): 127-135. DOI: 10.3978/j. issn.2223-4683.2016.01.08.
[71] Lahrmann H, Cortelli P, Hilz M, et al. EFNS guidelines on the diagnosis and management of orthostatic hypotension [J]. Eur J Neurol, 2006, 13(9): 930-936. DOI: 10.1111/ j.1468-1331.2006.01512.x.
[72] Norcliffe-Kaufmann L, Kaufmann H, Palma JA, et al. Orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies [J]. Ann Neurol, 2018, 83(3): 522-531. DOI: 10.1002/ ana.25170.
[73] Wang Y, Shen Y, Xiong KP, et al. Tonic electromyogram density in multiple system atrophy with predominant parkinsonism and Parkinson's disease[J]. Chin Med J (Engl), 2017, 130(6): 684-690. DOI: 10.4103/0366-6999.201603.
[74] Berry RB, Quan SF, Abreu AR. The AASM manual for the scoring of sleep and associated events: rules, terminology and technical specifications[M]. Darien IL: American Academy of Sleep Medicine, 2020.
[75] 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[J]. Parkinsonism Relat Disord, 2012, 18(5): 494-500. DOI: 10.1016/j.parkreldis.2012. 01.009.
[76] 曹振汤, 潘华, 冯涛. 肛门括约肌肌电图对多系统萎缩与帕 金森病的诊断价值[J]. 临床神经病学杂志, 2018, 31(4): 241-244. DOI: 10.3969/j.issn.1004-1648.2018.04.001. Cao ZT, Pan H, Feng T. The diagnostic value of external anal sphincter electromyography in multiple system atrophy and Parkinson's disease[J]. J Clin Neurol, 2018, 31(4):241-244.DOI:10.3969/j.issn.1004-1648.2018.04.001.
[77] Albanese A, Bonuccelli U, Brefel C, et al. Consensus statement on the role of acute dopaminergic challenge in Parkinson's disease[J]. Mov Disord, 2001, 16(2): 197-201. DOI: 10.1002/mds.1069.
[78] O'Sullivan SS, Massey LA, Williams DR, et al. Clinical outcomes of progressive supranuclear palsy and multiple system atrophy[J]. Brain, 2008, 131(Pt 5): 1362-1372. DOI: 10.1093/brain/awn065.
[79] Kaufmann H, Norcliffe-Kaufmann L, Palma JA, et al. Natural history of pure autonomic failure: a United States prospective cohort[J]. Ann Neurol, 2017, 81(2): 287-297. DOI: 10.1002/ana.24877.
[80] Goldstein DS, Holmes C, Sharabi Y, et al. Plasma levels of catechols and metanephrines in neurogenic orthostatic hypotension[J]. Neurology, 2003, 60(8): 1327-1332. DOI: 10.1212/01.wnl.0000058766.46428.f3.
[81] Palma JA, Norcliffe-Kaufmann L, Martinez J, et al. Supine plasma NE predicts the pressor response to droxidopa in neurogenic orthostatic hypotension[J]. Neurology, 2018, 91(16): e1539-e1544.DOI: 10.1212/WNL.0000000000006369.
[82] Singer W, Berini SE, Sandroni P, et al. Pure autonomic failure: predictors of conversion to clinical CNS involvement[J]. Neurology, 2017, 88(12): 1129-1136. DOI: 10.1212/WNL.0000000000003737.
[83] Singer W, Schmeichel AM, Shahnawaz M, et al. Alpha-synuclein oligomers and neurofilament light chain in spinal fluid differentiate multiple system atrophy from Lewy body synucleinopathies[J]. Ann Neurol, 2020, 88(3): 503-512. DOI: 10.1002/ana.25824.
[84] Groveman BR, Orrù CD, Hughson AG, et al. Rapid and ultra-sensitive quantitation of disease-associated α-synuclein seeds in brain and cerebrospinal fluid by αSyn RT-QuIC[J]. Acta Neuropathol Commun, 2018, 6(1): 7. DOI: 10.1186/s40478-018-0508-2.
[85] Singer W, Schmeichel AM, Shahnawaz M, et al. Alpha-synuclein oligomers and neurofilament light chain predict phenoconversion of pure autonomic failure[J]. Ann Neurol, 2021, 89(6): 1212-1220. DOI: 10.1002/ana. 26089.
[86] Donadio V, Incensi A, Rizzo G, et al. Skin biopsy may help to distinguish multiple system atrophy-parkinsonismfrom Parkinson's disease with orthostatic hypotension[J]. Mov Disord, 2020, 35(9): 1649-1657. DOI: 10.1002/mds. 28126.
[87] Doppler K, Weis J, Karl K, et al. Distinctive distribution of phospho-alpha-synuclein in dermal nerves in multiple system atrophy[J]. Mov Disord, 2015, 30(12): 1688-1692. DOI: 10.1002/mds.26293.
[88] Klockgether T. Sporadic ataxia with adult onset: classification and diagnostic criteria[J]. Lancet Neurol, 2010, 9(1): 94-104. DOI: 10.1016/S1474-4422(09) 70305-9.
[89] Wenning GK, Tison F, Seppi K, et al. Development and validation of the Unified Multiple System Atrophy Rating Scale (UMSARS) [J]. Mov Disord, 2004, 19(12): 1391-1402. DOI: 10.1002/mds.20255.
[90] Palma JA, Vernetti PM, Perez MA, et al. Limitations of the unified multiple System Atrophy Rating Scale as outcome measure for clinical trials and a roadmap for improvement[J]. Clin Auton Res, 2021, 31(2): 157-164. DOI: 10.1007/s10286-021-00782-w.
[91] Krismer F, Seppi K, Jönsson L, et al. Sensitivity to change and patient-centricity of the Unified Multiple System Atrophy Rating Scale Items: a data-driven analysis[J]. Mov Disord, 2022, 37(7): 1425-1431. DOI: 10.1002/mds. 28993.