BRAIN and NERVE－神経研究の進歩72巻9号

2020年09月発行

特集 皮質性小脳萎縮症へのアプローチ

孤発性小脳性運動失調症—multiple system atrophyとmono system atrophy

著者： 渡辺宏久¹ 伊藤瑞規¹ 水谷泰彰¹ 植田晃広¹ 島さゆり¹

所属機関： ¹藤田医科大学医学部脳神経内科学

ページ範囲：P.931 - P.937

文献概要

孤発性小脳性運動失調症の代表的疾患は小脳性運動失調優位型多系統萎縮症（MSA-C）と皮質性小脳萎縮症である。両疾患は，αシヌクレイン病理により明瞭に異なる。しかし，MSA-Cは発症から小脳性運動失調と自律神経不全が揃うのに約2年かかり，小脳失調のみを呈する時期（mono system atrophy）は10年以上に及び得る。Mono system atrophyの理解は，早期診断と創薬開発に重要である。

参考文献

1)Watanabe H, Saito Y, Terao S, Ando T, Kachi T, et al: Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients. Brain 125: 1070-1083, 2002

2)Riku Y, Watanabe H, Mimuro M, Iwasaki Y, Ito M, et al: Non-motor multiple system atrophy associated with sudden death: pathological observations of autonomic nuclei. J Neurol 264: 2249-2257, 2017

3)Watanabe H, Riku Y, Hara K, Kawabata K, Nakamura T, et al: Clinical and imaging features of multiple system atrophy: challenges for an early and clinically definitive diagnosis. J Mov Disord 11: 107-120, 2018

4)日本神経学会（監修）, 「脊髄小脳変性症・多系統萎縮症診療ガイドライン」作成委員会（編集）: 脊髄小脳変性症・多系統萎縮症診療ガイドライン2018. 南江堂, 東京, 2018

5)Yoshida K, Kuwabara S, Nakamura K, Abe R, Matsushima A, et al: Idiopathic cerebellar ataxia (IDCA): diagnostic criteria and clinical analyses of 63 Japanese patients. J Neurol Sci 384: 30-35, 2018

6)Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, et al: Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology 89: 1043-1049, 2017

7)Jacobi H, Rakowicz M, Rola R, Fancellu R, Mariotti C, et al: Inventory of non-ataxia signs (INAS): validation of a new clinical assessment instrument. Cerebellum 12: 418-428, 2013

8)Keezer MR, Wolfson C, Postuma RB: Age, gender, comorbidity, and the MDS-UPDRS: results from a population-based study. Neuroepidemiology 46: 222, 2016［doi: 10.1159/000444021］

9)Miki Y, Foti SC, Asi YT, Tsushima E, Quinn N, et al: Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study. Brain 142: 2813-2827, 2019

10)Lin DJ, Hermann KL, Schmahmann JD: The diagnosis and natural history of multiple system atrophy, cerebellar type. Cerebellum 15: 663-679, 2016

11)Kanazawa M, Tada M, Onodera O, Takahashi H, Nishizawa M, et al: Early clinical features of patients with progressive supranuclear palsy with predominant cerebellar ataxia. Parkinsonism Relat Disord 19: 1149-1151, 2013

12)Gilman S, Little R, Johanns J, Heumann M, Kluin K, et al: Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology 55: 527-532, 2000

13)Petrovic IN, Ling H, Asi Y, Ahmed Z, Kukkle PL, et al: Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch. Mov Disord 27: 1186-1190

14)Wenning GK, Geser F, Krismer F, Seppi K, Duerr S, et al: The natural history of multiple system atrophy: a prospective European cohort study. Lancet Neurol 12: 264-274, 2013

15)Coon EA, Sletten DM, Suarez MD, Mandrekar JN, Ahlskog JE, et al: Clinical features and autonomic testing predict survival in multiple system atrophy. Brain 138: 3623-3631, 2015

16)Foubert-Samier A, Pavy-Le Traon A, Guillet F, Le-Goff M, Helmer C, et al: Disease progression and prognostic factors in multiple system atrophy: a prospective cohort study. Neurobiol Dis 139: 104813, 2020［doi: 10.1016/j.nbd.2020.104813］

17)Dieudonné S, Dumoulin A: Serotonin-driven long-range inhibitory connections in the cerebellar cortex. J Neurosci 20: 1837-1848, 2000

18)Fox SH: Non-dopaminergic treatments for motor control in Parkinson's disease. Drugs 73: 1405-1415, 2013

19)Espay AJ, LeWitt PA, Kaufmann H: Norepinephrine deficiency in Parkinson's disease: the case for noradrenergic enhancement. Mov Disord 29: 1710-1719, 2014

20)Sugiyama A, Yokota H, Yamanaka Y, Mukai H, Yamamoto T, et al: Vertical pons hyperintensity and hot cross bun sign in cerebellar-type multiple system atrophy and spinocerebellar ataxia type 3. BMC Neurol 20: 157, 2020［doi: 10.1186/s12883-020-01738-9］

21)Watanabe H, Fukatsu H, Katsuno M, Sugiura M, Hamada K, et al: Multiple regional 1H-MR spectroscopy in multiple system atrophy: NAA/Cr reduction in pontine base as a valuable diagnostic marker. J Neurol Neurosurg Psychiatry 75: 103-109, 2004

22)Ito M, Watanabe H, Kawai Y, Atsuta N, Tanaka F, et al: Usefulness of combined fractional anisotropy and apparent diffusion coefficient values for detection of involvement in multiple system atrophy. J Neurol Neurosurg Psychiatry 78: 722-728, 2007

23)Ferini-Strambi L, Marelli S, Combi R: Does the type of multisystem atrophy, Parkinsonism, or cerebellar ataxia impact on the nature of sleep disorders? Curr Neurol Neurosci Rep 16: 105, 2016［doi: 10.1007/s11910-016-0704-z］

24)Doppler K, Weis J, Karl K, Ebert S, Ebentheuer J, et al: Distinctive distribution of phospho-alphasynuclein in dermal nerves in multiple system atrophy. Mov Disord 30: 1688-1692, 2015

25)Kikuchi A, Takeda A, Okamura N, Tashiro M, Hasegawa T, et al: In vivo visualization of alpha-synuclein deposition by carbon-11-labelled 2-[2-(2-dimethylaminothiazol-5-yl)ethenyl]-6-[2-(fluoro)ethoxy]benzoxazole positron emission tomography in multiple system atrophy. Brain 133: 1772-1178, 2010

26)Koga S, Ono M, Sahara N, Higuchi M, Dickson DW: Fluorescence and autoradiographic evaluation of tau PET ligand PBB3 to α-synuclein pathology. Mov Disord 32: 884-892, 2017

27)Heras-Garvin A, Stefanova N: MSA: from basic mechanisms to experimental therapeutics. Parkinsonism Relat Disord S1353-8020(20)30020-1, 2020［doi: 10.1016/j.parkreldis.2020.01.010］

28)Postuma RB, Berg D, Stern M, Poewe W, Olanow CW, et al: MDS clinical diagnostic criteria for Parkinson's disease. Mov Disord 30: 1591-1601, 2015

29)Berg D, Postuma RB, Adler CH, Bloem BR, Chan P, et al: MDS research criteria for prodromal Parkinson's disease. Mov Disord 30: 1600-1611, 2015