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

皮質性小脳萎縮症の病理

著者： 古賀俊輔¹

所属機関： ¹メイヨークリニック神経科学部門

ページ範囲：P.939 - P.946

文献概要

皮質性小脳萎縮症は，小脳皮質と下オリーブ核に神経脱落が限局する神経変性疾患である。多系統萎縮症を除く孤発性の小脳失調症に対する臨床診断名として用いられることもあるが，本稿では自験例を通じて皮質性小脳萎縮症が純粋な小脳性運動失調以外に多様な症状を呈することを提示する。臨床像を問わず，小脳皮質と下オリーブ核に神経脱落が限局する疾患を包括的に指す病理診断名として皮質性小脳萎縮症は用いられるべきと考える。

参考文献

1)Greenfield JG, Graham DI, Lantos PL: Greenfield's Neuropathology. 7th ed. Arnold, London, 2002

2)Kovacs GG: Neuropathology of Neurodegenerative Diseases: A Practical Guide. Cambridge University Press, Cambridge, 2015, ppvii, p309

3)古賀俊輔: 孤発性脊髄小脳変性症の分類を再考する. Brain Nerve 68: 1453-1457, 2016

4)吉田邦広: 皮質性小脳萎縮症とは何か. 神経治療35: 320-325, 2018

5)Ishikawa K, Watanabe M, Yoshizawa K, Fujita T, Iwamoto H, et al: Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6). J Neurol Neurosurg Psychiatry 67: 86-89, 1999

6)Yokota O, Tsuchiya K, Terada S, Oshima K, Ishizu H, et al: Frequency and clinicopathological characteristics of alcoholic cerebellar degeneration in Japan: a cross-sectional study of 1,509 postmortems. Acta Neuropathol 112: 43-51, 2006

7)Marie P, Foix C, Alajouanine T: De l'atrophie cerebelluse tardive a predominance corticale. Rev neurol (Paris) ii: 849-885, 1082-1111, 1922

8)Cervós-Navarro J, Urich H: Metabolic and degenerative diseases of the central nervous system: pathology, biochemistry, and genetics. Academic Press, San Diego, 1995, pp573-574

9)Harding AE: “Idiopathic” late onset cerebellar ataxia. A clinical and genetic study of 36 cases. J Neurol Sci 51: 259-271, 1981

10)Abele M, Burk K, Schols L, Schwartz S, Besenthal I, et al: The aetiology of sporadic adult-onset ataxia. Brain 125: 961-968, 2002

11)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

12)Fox SH, Nieves A, Bergeron C, Lang AE: Pure cerebello-olivary degeneration of Marie, Foix, and Alajouanine presenting with progressive cerebellar ataxia, cognitive decline, and chorea. Mov Disord 18: 1550-1554, 2003

13)Ota S, Tsuchiya K, Anno M, Niizato K, Akiyama H: Distribution of cerebello-olivary degeneration in idiopathic late cortical cerebellar atrophy: clinicopathological study of four autopsy cases. Neuropathology 28: 43-50, 2008

14)Kanazawa M, Shimohata T, Toyoshima Y, Tada M, Kakita A, et al: Cerebellar involvement in progressive supranuclear palsy: A clinicopathological study. Mov Disord 24: 1312-1318, 2009

15)Koga S, Josephs KA, Ogaki K, Labbe C, Uitti RJ, et al: Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C. Mov Disord 31: 653-662, 2016

16)Togo T, Sahara N, Yen SH, Cookson N, Ishizawa T, et al: Argyrophilic grain disease is a sporadic 4-repeat tauopathy. J Neuropathol Exp Neurol 61: 547-556, 2002

17)Schols L, Szymanski S, Peters S, Przuntek H, Epplen JT, et al: Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet 107: 132-137, 2000

18)Hadjivassiliou M, Martindale J, Shanmugarajah P, Grunewald RA, Sarrigiannis PG, et al: Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients. J Neurol Neurosurg Psychiatry 88: 301-309, 2017

19)Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, et al: ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing. J Hum Genet 59: 589-590, 2014