| Item type |
文献 / Documents(1) |
| 公開日 |
2024-10-10 |
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 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 |
| item_1722929371688 |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1093/braincomms/fcad281 |
|
|
言語 |
ja |
|
|
関連名称 |
10.1093/braincomms/fcad281 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
‘Raisin bread sign’ feature of pontine autosomal dominant microangiopathy and leukoencephalopathy |
|
言語 |
en |
| タイトル別表記 |
|
|
その他のタイトル |
‘Raisin bread sign’ feature of PADMAL |
|
言語 |
en |
| 著者 |
Kikumoto, Mai
Kurashige, Takashi
Ohshita, Tomohiko
Kume, Kodai
Kikumoto, Osamu
Nezu, Tomohisa
Aoki, Shiro
Ochi, Kazuhide
森野, 豊之
Nomura, Eiichi
Yamashita, Hiroshi
Kaneko, Mayumi
Maruyama, Hirofumi
Kawakami, Hideshi
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Pontine autosomal dominant microangiopathy and leukoencephalopathy is one of hereditary cerebral small vessel diseases caused by pathogenic variants in COL4A1 3′UTR and characterized by multiple small infarctions in the pons. We attempted to establish radiological features of this disease. We performed whole exome sequencing and Sanger sequencing in one family with undetermined familial small vessel disease, followed by clinicoradiological assessment and a postmortem examination. We subsequently investigated clinicoradiological features of patients in a juvenile cerebral vessel disease cohort and searched for radiological features similar to those found in the aforementioned family. Sanger sequencing was performed in selected cohort patients in order to detect variants in the same gene. An identical variant in the COL4A1 3′UTR was observed in two patients with familial small vessel disease and the two selected patients, thereby confirming the pontine autosomal dominant microangiopathy and leukoencephalopathy diagnosis. Furthermore, postmortem examination showed that the distribution of thickened media tunica and hyalinized vessels was different from that in lacunar infarctions. The appearance of characteristic multiple oval small infarctions in the pons, which resemble raisin bread, enable us to make a diagnosis of pontine autosomal dominant microangiopathy and leukoencephalopathy. This feature, for which we coined the name ‘raisin bread sign’, was also correlated to the pathological changes. |
|
言語 |
en |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
PADMAL |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
COL4A1 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
hereditary stroke |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
MRI |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
cerebral small vessel disease and pons |
| bibliographic_information |
en : Brain Communications
巻 5,
号 6,
p. fcad281,
発行日 2023-10-22
|
| 収録物ID |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
26321297 |
| 出版者 |
|
|
出版者 |
Oxford University Press |
|
言語 |
en |
| item_10001_rights_15 |
|
|
言語 |
en |
|
権利情報 |
This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| item_1723180141928 |
|
|
識別子 |
407265 |
|
識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
braincom_5_6_fcad281.pdf (1.7 MB)
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