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GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan
http://hdl.handle.net/10659/00005427
http://hdl.handle.net/10659/000054274af4baf1-f76b-4950-8d6e-9745e14c8209
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
R-2017-181_Matsuda.pdf (1.3 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2018-04-12 | |||||
| タイトル | ||||||
| タイトル | GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | β-galactosidase deficiency | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | feline GM1 gangliosidosis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Japanese domestic cat | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | lysosomal storage disease | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
UENO, Hiroshi
× UENO, Hiroshi× YAMATO, Osamu× SUGIURA, Takeshi× KOHYAMA, Moeko× YABUKI, Akira× 三好, 健二郎× 松田, 一哉× UCHIDE, Tsuyoshi |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | A male Japanese domestic cat with retarded growth in Hokkaido, Japan, showed progressive motor dysfunction, such as ataxia starting at 3 months of age and tremors, visual disorder and seizure after 4 months of age. Finally, the cat died of neurological deterioration at 9 months of age. Approximately half of the peripheral blood lymphocytes had multiple abnormal vacuoles. Magnetic resonance imaging showed bisymmetrical hyperintensity in the white matter of the parietal and occipital lobes in the forebrain on T2-weighted and fluid-attenuated inversion recovery images, and mild encephalatrophy of the olfactory bulbs and temporal lobes. The activity of lysosomal acid β-galactosidase in leukocytes was negligible, resulting in the biochemical diagnosis of GM1 gangliosidosis. Histologically, swollen neurons characterized by accumulation of pale, slightly granular cytoplasmic materials were observed throughout the central nervous system. Dysmyelination or demyelination and gemistocytic astrocytosis were observed in the white matter. Ultrastructually, membranous cytoplasmic bodies were detected in the lysosomes of neurons. However, genetic analysis did not identify the c.1448G>C mutation, which is the single known mutation of feline GM1 gangliosidosis, suggesting that the cat was affected with a new variant of the feline disease. | |||||
| 書誌情報 |
The Journal of veterinary medical science 巻 78, 号 1, p. 91-95, 発行日 2016-01 |
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| ISBN | ||||||
| 識別子タイプ | ISBN | |||||
| 関連識別子 | 0916-7250 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | http://dx.doi.org/10.1292/jvms.15-0281 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 出版者 | ||||||
| 出版者 | 日本獣医学会 | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Article | |||||
