Takao Masaki, Aoyama Masahiro, Ishikawa Kinya, Sakiyama Yoshio, Yomono Harumi, Saito Yuko, Kurisaki Hiroshi, Mihara Ban, Murayama Shigeo
Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, The Brain Bank for Aging Research, Tokyo, Japan.
BMJ Case Rep. 2011 Apr 1;2011:bcr0120113685. doi: 10.1136/bcr.01.2011.3685.
Clinical phenotype of individuals with spinocerebellar ataxia 2 (SCA2) is characterised by cerebellar ataxia and cognitive impairment. Although L-dopa-responsive Parkinsonism is considered as a rare clinical presentation in SCA2, it has been brought to the attention of many neurologists in several studies. The authors report an autopsy case of SCA2 with Parkinsonism from a Japanese family using archival materials of our Brain Bank to describe unique neuropathologic findings. The individual clinically showed Parkinsonism as a predominant phenotype instead of cerebellar ataxia. Besides the classic SCA2 neuropathologic alterations, Lewy bodies and Lewy neurites were present in the brainstem nuclei. Genetic analysis revealed shorter abnormal expansion of CAG repeats (less than 39). In contrast, the authors could not find α-synuclein pathology in two SCA2 cases without Parkinsonism. The present case will provide a neuropathologic evidence of correlation between α-synucleinopathy and Parkinsonism of SCA2 as well as shed light on understanding the pathomechanism of Parkinsonism in SCA2.
脊髓小脑共济失调2型（SCA2）患者的临床表型以小脑共济失调和认知障碍为特征。尽管左旋多巴反应性帕金森病在SCA2中被认为是一种罕见的临床表现，但在多项研究中已引起许多神经科医生的关注。作者利用我们脑库的存档材料报告了一例来自日本家族的伴有帕金森病的SCA2尸检病例，以描述独特的神经病理学发现。该个体临床上以帕金森病为主要表型，而非小脑共济失调。除了经典的SCA2神经病理学改变外，脑干核中还存在路易小体和路易神经突。基因分析显示CAG重复序列异常扩展较短（少于39个）。相比之下，作者在两例无帕金森病的SCA2病例中未发现α-突触核蛋白病变。本病例将为α-突触核蛋白病与SCA2帕金森病之间的相关性提供神经病理学证据，并有助于理解SCA2中帕金森病的发病机制。
