Itoh Kyoko, Kasai Takashi, Tsuji Yukiko, Saito Kozo, Mizuta Ikuko, Harada Yoshinori, Sudoh Shinji, Mizuno Toshiki, Nakagawa Masanori, Fushiki Shinji
Department of Pathology & Applied Neurobiology, Graduate School of Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Neuropathology. 2014 Jun;34(3):309-13. doi: 10.1111/neup.12092. Epub 2014 Jan 7.
Multiple system atrophy (MSA) is an oligodendrogliopathy of presumably sporadic origin, characterized by prominent α-synuclein inclusions with neuronal multisystem degeneration, although a few Mendelian pedigrees have been reported. Here we report two familial cases of MSA of unknown genetic background. One patient was diagnosed as a possible MSA-C (cerebellar dysfuntion) case, and the other as clinically possible MSA-P (parkinsonism), which turned out to be definite MSA, based on a detailed autopsy. The neuropathology showed extensive deposition of α-synuclein in the glia as well as in the neurons located in the cerebral cortices and hippocampal systems, although neither multiplication of the SNCA gene or mutations in COQ2 gene were identified in the family concerned.
多系统萎缩（MSA）是一种可能散发起源的少突胶质细胞病，其特征是α-突触核蛋白包涵体显著并伴有神经元多系统变性，尽管已有少数孟德尔遗传谱系的报道。在此，我们报告两例遗传背景不明的家族性MSA病例。一名患者被诊断为可能的MSA-C（小脑功能障碍）病例，另一名临床诊断为可能的MSA-P（帕金森综合征），经详细尸检后确诊为MSA。神经病理学显示，α-突触核蛋白在胶质细胞以及位于大脑皮层和海马系统的神经元中广泛沉积，尽管在所涉家族中未发现SNCA基因倍增或COQ2基因突变。
