| Item type |
文献 / Documents(1) |
| 公開日 |
2019-03-14 |
| アクセス権 |
|
|
アクセス権 |
open access |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
|
|
関連識別子 |
https://doi.org/10.1111/neup.12523 |
|
|
関連名称 |
10.1111/neup.12523 |
| 出版タイプ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| タイトル |
|
|
タイトル |
Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy |
| タイトル別表記 |
|
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その他のタイトル |
ALS clinically presenting with PMA |
| 著者 |
マツバラ, トモヤス
オダ, マサヤ
タカハシ, テツヤ
ワタナベ, チグサ
タチヤマ, ヨシロウ
森野, 豊之
カワカミ, ヒデシ
梶, 龍兒
マルヤマ, ヒロフミ
ムラヤマ, シゲオ
和泉, 唯信
|
| 抄録 |
|
|
内容記述 |
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. |
| キーワード |
|
|
主題 |
amyotrophic lateral sclerosis |
| キーワード |
|
|
主題 |
autopsy |
| キーワード |
|
|
主題 |
motor neuron disease |
| キーワード |
|
|
主題 |
progressive muscular atrophy |
| キーワード |
|
|
主題 |
TDP-43 |
| 書誌情報 |
en : Neuropathology
巻 39,
号 1,
p. 47-53,
発行日 2018-12-03
|
| 収録物ID |
|
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
14401789 |
| 収録物ID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA11630618 |
| 出版者 |
|
|
出版者 |
Japanese Society of Neuropathology |
| 出版者 |
|
|
出版者 |
Wiley |
| 備考 |
|
|
値 |
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. |
| EID |
|
|
識別子 |
370524 |
| 言語 |
|
|
言語 |
eng |
neup_39_1_47.pdf (1.37 MB)
