Epidemiological evidence on multiple system atrophy
Article Received: 23 March 2005 Accepted: 10 September 2005 Summary.
Multiple system atrophy (MSA), is a sporadic neurodegenerative disorder characterized clinically by any combination of parkinsonian, autonomic, cerebellar or pyramidal symptoms and signs. The frequence of disease is estimated for the incidence rate to 0.6 cases per 100.000 person-years, while the prevalence rate is included between 1.86 and 4.9 cases per 100.000 pop. A risk factor seems to be the occupational history of farming also if the occupational exposure to pesticides is not associated with MSA. Smoking is probably a protective factor in MSA as Parkinson’s disease. MSA seems a sporadic disease also if recently a German family with two MSA cases has been reported. The polymorphism association studies support a role for inflammation-related genes in risk for MSA. The current epidemiological and clinical evidence suggests that likely the etiopathogenesis of MSA is complex, and that many genetic as well as environmental factors are involved. Unfortunately, the most of studies in MSA are lacking in a sample size estimate to test the hypothesis, then the scientific evidence is poor. Then, much larger numbers of cases and controls are necessary for these studies to reach sufficient power, but collecting such large numbers is feasible only in the framework of multicentric consortia.
Keywords: Multiple system atrophy, epidemiology. References Alavanja, MCR, Sandler, DP, McMaster, SB, Zahm, SH, McDonnell, CJ, Lynch, CF, Pennybacker, M, Rothman, N, Dosemeci, M, Bond, AE, Blair, A 1996 The agricultural health study. Env Health Perspect 104 362 369 Google Scholar Bandmann, O, Wenning, GK, Quinn, N, Harding, AE 1995 Arg296 to Cys296 polymorphism in exon 6 of cytochrome P450IID6 (CYP2D6) is not associated with multiple system atrophy. J Neurol Neurosurg Psychiatry 59 257 Google Scholar Ben-Shlomo, Y, Wenning, GK, Tison, F, Quinn, NP 1997 Survival of patients with pathologically proven multiple system atrophy: a meta-analysis. Neurology 48 384 393 PubMed Google Scholar Bennett, P Bonifati, V Bonuccelli, U Colosimo, C De Mari, M Fabbrni, G Marconi, R Meco, G Nicholl, DJ Stocchi, F Vanacore, N Vioeregge, P Williams, AC ESGAP Consortium 1998 Direct genetic evidence for involvement of tau in progressive supranuclear palsy. Neurology 51 982 985 PubMed Google Scholar Bonifati, V, Oostra, BA, Heutink, P 2004 Unraveling the pathogenesis of Parkinson’s disease – the contribution of monogenic forms. Cell Mol Life Sci 61 1729 1750 CrossRef PubMed Google Scholar Bower, JH, Maraganore, DM, McDonnell, SK, Rocca, WA 1997 Incidence of progressive supranuclear palsy and multiple system atrophy in Olmsted County, Minnesota, 1976 to 1990. Neurology 49 1284 1288 PubMed Google Scholar Cairns, NJ, Atkinson, PF, Kovacs, T, Lees, AJ, Daniel, SE, Lantos, PL 1997 Apolipoprotein E epsilon 4 allele frequency in patients with multiple system atrophy. Neurosci Lett 221 161 164 CrossRef PubMed Google Scholar Chio, A, Magnani, C, Schiffer, D 1998 Prevalence of Parkinson’s disease in Northwestern Italy: comparison of tracer methodology and clinical ascertainment of cases. Mov Disord 13 400 405 PubMed Google Scholar Cho, S, Kin, CH, Cubelles, JF, Zabetian, CP, Hwang, DY, Kim, JW, Cohen, BM, Biaggioni, I, Robertson, , Kim, KS 2003 Variations in the dopamine-β-hydroxylase gene are not associated with the autonomic disorders, pure autonomic failure or multiple system atrophy. Am J Med Genet 120A 234 236 CrossRef Google Scholar Chrysostome, V Tison, F Yekhlef, F Sourgen, C Baldi, I Datigues, JF for the MSA-Aquitaine Network 2004 Epidemiology of Multiple System Atrophy: a prevalence and pilot risk factor study in Aquitaine, France. Neuroepidemiology 23 201 208 CrossRef PubMed Google Scholar Colosimo, C Vanacore, N Bonifati, V Fabbrini, G Rum, A De Michele, G De Mari, M Bonuccelli, U Nicholl, DJ Meco, G European Study Group on Atypical Parkinsonism (ESGAP) Consortium 2001 Clinical diagnosis of multiple system atrophy: level of agreement between Quinn’s criteria and the consensus conference guidelines. Acta Neurol Scand 103 261 264 CrossRef PubMed Google Scholar de Rijk, MC, Breteler, MM, Graveland, GA, Ott, A, Grobbee, DE, van der Meche, FG, Hofman, A 1995 Prevalence of Parkinson’s disease in the elderly: the Rotterdam Study. Neurology 45 2143 2146 PubMed Google Scholar Frumkin, H 1998 Multiple system atrophy following chronic carbon disulfide exposure. Environ Health Perspect 106 611 613 PubMed Google Scholar Garte, S, Gaspari, L, Alexandrie, AK, Ambrosone, C, Autrup, H, Autrup, JL, Baranova, H, Bathum, L, Benhamou, S, Boffetta, P, Bouchardy, C, Breskvar, K, Brockmoller, J, Cascorbi, I, Clapper, ML, Coutelle, C, Daly, A, Dell’Omo, M, Dolzan, V, Dresler, CM, Fryer, A, Haugen, A, Hein, DW, Hildesheim, A, Hirvonen, A, Hsieh, LL, Ingelman-Sundberg, M, Kalina, I, Kang, D, Kihara, M, Kiyohara, C, Kremers, P, Lazarus, P, Le Marchand, L, Lechner, MC, van Lieshout, EM, London, S, Manni, JJ, Maugard, CM, Morita, S, Nazar-Stewart, V, Noda, K, Oda, Y, Parl, FF, Pastorelli, R, Persson, I, Peters, WH, Rannug, A, Rebbeck, T, Risch, A, Roelandt, L, Romkes, M, Ryberg, D, Salagovic, J, Schoket, B, Seidegard, J, Shields, PG, Sim, E, Sinnet, D, Strange, RC, Stucker, I, Sugimura, H, To-Figueras, J, Vineis, P, Yu, MC, Taioli, E 2001 Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol Biomark Prev 10 1239 1248 Google Scholar Gilman, S, Low, PA, Quinn, N, Albanese, A, Ben-Shlomo, Y, Fowler, CJ, Kaufmann, H, Klockgether, T, Lang, AE, Lantos, PL, Litvan, I, Mathias, CJ, Oliver, E, Robertson, D, Schatz, I, Wenning, GK 1999 Consensus statement on the diagnosis of multiple system atrophy. J Neurol Sci 163 94 98 CrossRef PubMed Google Scholar Hanna, PA, Jankovic, J, Kirkpatrick, JB 1999 Multiple system atrophy. The putative causative role of environmental toxins. Arch Neurol 56 90 94 CrossRef PubMed Google Scholar Hwanh, SJ, Beaty, TH, Liang, KY, Coresh, J, Khoury, MJ 1994 Minimum sample size estimation to detect gene-environment interaction in case-control designs. Am J Epidemiol 140 1029 1037 Google Scholar Hashoda, H, Goto, J, Hao, N, Takahashi, N, Hirai, M, Kanazawa, I, Sakaki, Y 1998 Cloning and mapping of ZNF231, anovel brain-specific gene encoding neuronal double zinc finger protein whose expression is enhanced in a neurodegenerative disorder, multiple system atrophy (MSA). Genomics 54 50 58 Google Scholar Infante, J, Llorca, J, Berciano, J, Combarros, O 2005 Interleukin-8, intercellular adhesion molecule-1 and tumour necrosis factor-alpha gene polymorphisms and the risk for multiple system atrophy. J Neurol Sci 228 11 13 CrossRef PubMed Google Scholar Iwahashi, K, Miyataake, R, Tsuneoka, Y, Matsuo, Y, Ichikawa, Y, Hosokawa, K, Sato, K, Hayabara, T 1995 A novel cytochrome P450IID6 (CYPIID6) mutant gene associated with multiple system atrophy. J Neurol Neurosurg Psychatry 58 263 Google Scholar Lee, MS, Lyoo, CH, Ulmanen, I, Syvanen, AC, Rinne, JO 2001 Genotypes of cathecol-O-methyltransferase and response to levodopa treatment in patients with Parkinson’s disease. Neurosci Lett 298 131 134 PubMed Google Scholar
MacMahon B, Pugh TF (1970) Epidemiology: principles and methods. Little, Brown, Boston
Google Scholar Morris, HR, Scxhrag, A, Nath, U, Burn, D, Quinn, NP, Daniel, S, Wood, NW, Lees, AJ 2001 Effect of ApoE and tau on age of onset of progressive supranuclear palsy and multiple system atrophy. Neurosci Lett 312 118 120 CrossRef PubMed Google Scholar Nakao, N, Brundin, O 1997 Effects of a-phenyl-tert-butyl nitrone on neuronal survival and motor function following intrastriatal injections of quinolinate or 3-nitropropionic acid. Neuroscience 76 749 761 PubMed Google Scholar Nee, LE, Gomez, M, Dambrosia, J, Bale, S, Eldridge, R, Polinsky, RJ 1991 Environmental-occupational risk factors in multiple system atrophy: a preliminary investigation. Clin Auton Res 1 9 13 CrossRef PubMed Google Scholar Nicholl, DJ, Bennett, P, Hiller, L, Bonifati, V, Vanacore, N, Fabbrini, G, Marconi, R, Colosimo, C, Lamberti, P, Stocchi, F, Bonuccelli, U, Vieregge, P, Ramsden, DB, Meco, G, Williams, AC 1999 A study of five candidate genes in Parkinson’s disease and related neurodegenerative disorders. European Study Group on Atypical Parkinsonism. Neurology 53 1415 1421 PubMed Google Scholar Nishimura, M, Kawakami, H, Komure, O, Maruyama, H, Morino, H, Izumi, Y, Nakamura, S, Kaji, R, Kuno, S 2002 Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy. Mov Disord 17 808 811 PubMed Google Scholar Nishimura, M, Kuno, S, Kaji, R, Kawakami, H 2005 Influence of a tumor necrosis factor gene polymorphism in Japanese patients with multiple system atrophy. Neurosci Lett 374 218 221 CrossRef PubMed Google Scholar Plantè-Bordeneuve, V, Bandmann, O, Wenning, G, Quinn, NP, Daniel, SE, Harding, AE 1995 CYP2D6 debrisoquine hydroxylase gene polymorphism in multiple system atrophy. Mov Disord 10 277 278 PubMed Google Scholar
Quinn N (1989) Multiple system atrophy – the nature of the beast. J Neurol Neurosurg Psychiatry (Suppl): 78–89
Google Scholar Schneider, JA, Gearing, M, Robbins, RS, De L’Aune, W, Mirra, SS 1995 Apolipoprotein E genotype in diverse neurodegenerative diseases. Ann Neurol 38 131 135 CrossRef PubMed Google Scholar Schrag, A, Ben-Shlomo, Y, Quinn, NP 1999 Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study. Lancet 354 1771 1775 CrossRef PubMed Google Scholar Tan, EK, Zhao, Y, Puong, KY, Law, HY, Chan, LL, Yew, K, Tan, C, Shen, H, Chandran, VR, Teoh, ML, Yih, Y, Pavanni, R, Wong, MC, Ng, IS 2004 Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 63 362 363 PubMed Google Scholar Trenkwalder, C, Schwarz, J, Gebhard, J, Ruland, D, Trenkwalder, P, Hense, HW, Oertel, WH 1995 Starnberg trial on epidemiology of Parkinsonism and hypertension in the elderly. Prevalence of Parkinson’s disease and related disorders assessed by a door-to-door survey of inhabitants older than 65 years. Arch Neurol 52 1017 1022 PubMed Google Scholar Vanacore, N Bonifati, V Fabbrini, G Colosimo, C De Michele, G Marconi, R Stocchi, F Nicholl, D Bonuccelli, U De Mari, M Vieregge, P Meco, G and the ESGAP Consortium 2005 A case-control study on multiple system atrophy. Mov Disord 20 158 163 CrossRef PubMed Google Scholar Vanacore, N Bonifati, V Fabbrini, G Colosimo, C Marconi, R Nicholl, D Bonuccelli, U Stocchi, F Lamberti, P Volpe, G De Michele, G Iavarone, I Bennet, P Vieregge, P Meco, G and the European Study Group on Atypical Parkinsonisms 2000 Smoking habits in multiple system atrophy and progressive supranuclear palsy. Neurology 54 114 119 PubMed Google Scholar Watanabe, H, Saito, Y, Terao, S, Ando, T, Kachi, T, Mukai, E, Aiba, I, Abe, Y, Tamakoshi, A, Doyu, M, Hirayaman, M, Sobue, G 2002 Progression and prognosis in multiple system atrophy. An analysis of 230 Japanese patients. Brain 125 1070 1083 CrossRef PubMed Google Scholar Wenning, GK, Wagner, S, Daniel, S, Quinn, NP 1993 Multiple system atrophy: sporadic or familial? Lancet 342 681 CrossRef Google Scholar Wermuth, L, Joensen, P, Bunger, N, Jeune, B 1997 High prevalence of Parkinson’s disease in the Faroe Islands. Neurology 49 426 432 PubMed Google Scholar Wullner, U, Abele, M, Schmitz-Huebsch, T, Wilhelm, K, Benecke, R, Deuschl, G, Klockgether, T 2004 Probable multiple system atrophy in a German family. J Neurol Neurosurg Psychiatry 75 924 925 CrossRef PubMed Google Scholar Zondervan, KT, Cardon, LR 2004 The complex interplay among factors that influence allelic association. Nat Rev Genet 5 89 100 PubMed Google Scholar Copyright information
© Springer-Verlag/Wien 2005