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ID 113068
タイトル別表記
ALS clinically presenting with PMA
著者
Matsubara, Tomoyasu Mifukai Vihara Hananosato Hospital|Hiroshima University|Tokyo Metropolitan Geriatric Hospital & Institute of Gerontology
Oda, Masaya Mifukai Vihara Hananosato Hospital
Takahashi, Tetsuya Hiroshima University
Watanabe, Chigusa Hiroshima-Nishi Medical Center
Tachiyama, Yoshiro Hiroshima-Nishi Medical Center
Kawakami, Hideshi Hiroshima University
Maruyama, Hirofumi Hiroshima University
Murayama, Shigeo Tokyo Metropolitan Geriatric Hospital & Institute of Gerontology
和泉, 唯信 Mifukai Vihara Hananosato Hospital|Tokushima University 徳島大学 教育研究者総覧 KAKEN研究者をさがす
キーワード
amyotrophic lateral sclerosis
autopsy
motor neuron disease
progressive muscular atrophy
TDP-43
資料タイプ
学術雑誌論文
抄録
Amyotrophic lateral sclerosis (ALS) primarily affects upper and lower motor neurons. Phosphorylated TAR DNA-binding protein of 43 kDa (TDP-43) inclusion bodies are reportedly a pathological hallmark of sporadic ALS. Here, we present an atypical case of sporadic ALS that progressed very slowly, persisted for 19 years, and clinically appeared to only affect the lower motor neurons; however, upper motor neuron degeneration was detected on autopsy. Furthermore, no inclusion bodies positive for phosphorylated TDP-43, ubiquitin, fused in sarcoma, or SOD1 were detected in the CNS. We performed exome-sequencing data analysis but found no genetic disorders. This was therefore an unusual case of lower motor neuron-predominant ALS without TDP-43 pathology or known gene-disease associations. We also reviewed autopsied ALS cases that progressed slowly and had no phosphorylated TDP-43 or ubiquitin positive inclusions and present the clinicopathological features of such cases. Based on these results, there may be a sporadic ALS subgroup that progresses slowly and shows 76 no accumulation of phosphorylated TDP-43.
掲載誌名
Neuropathology
ISSN
14401789
cat書誌ID
AA11630618
出版者
Japanese Society of Neuropathology|Wiley
39
1
開始ページ
47
終了ページ
53
発行日
2018-12-03
備考
This is the peer reviewed version of the following article: Matsubara, T. , Oda, M. , Takahashi, T. , Watanabe, C. , Tachiyama, Y. , Morino, H. , Kawakami, H. , Kaji, R. , Maruyama, H. , Murayama, S. and Izumi, Y. (2019), Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy. Neuropathology, 39: 47-53, which has been published in final form at https://doi.org/10.1111/neup.12523. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions.
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
著者版
部局
医学系