Definite familial multiple system atrophy with unknown genetics |
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| Authors: | Kyoko Itoh Takashi Kasai Yukiko Tsuji Kozo Saito Ikuko Mizuta Yoshinori Harada Shinji Sudoh Toshiki Mizuno Masanori Nakagawa Shinji Fushiki |
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| Affiliation: | 1. Department of Pathology & Applied Neurobiology, Graduate School of Medical Sciences, Kyoto Prefectural University of Medicine, , Kyoto, Japan;2. Department of Neurology, Graduate School of Medical Sciences, Kyoto Prefectural University of Medicine, , Kyoto, Japan;3. Department of Pathology & Cell Regulation, Graduate School of Medical Sciences, Kyoto Prefectural University of Medicine, , Kyoto, Japan;4. Department of Neurology, National Hospital Organization, Utano National Hospital, , Kyoto, Japan |
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| Abstract: | 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. |
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| Keywords: | α ‐synuclein COQ2 glial cytoplasmic inclusion multiple system atrophy (MSA) SNCA |
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