| Item type |
文献 / Documents(1) |
| 公開日 |
2021-12-03 |
| アクセス権 |
|
|
アクセス権 |
open access |
| 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 |
| 出版社版DOI |
|
|
|
関連識別子 |
https://doi.org/10.2152/jmi.68.400 |
|
|
関連名称 |
10.2152/jmi.68.400 |
| 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 |
Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings |
| タイトル別表記 |
|
|
その他のタイトル |
Ataxia with vitamin E deficiency |
| 著者 |
Tabuena, Ma. Daisy
森垣, 龍馬
宮本, 亮介
牟礼, 英生
山本, 伸昭
三宅, 一央
松田, 拓
和泉, 唯信
髙木, 康志
Tabuena, Rollin P.
瓦井, 俊孝
|
| 抄録 |
|
|
内容記述 |
Here we report two siblings with ataxia and peripheral neuropathy. One patient showed head tremors. Genetic analysis revealed a mutation in the hepatic α-tocopherol transfer protein (α-TTP) gene (TTPA) on chromosome 8q13. They were diagnosed with ataxia with vitamin E deficiency which is firstly reported in the Philippines. As the symptoms of ataxia with vitamin E deficiency can be alleviated with lifelong vitamin E administration, differential diagnosis from similar syndromes is important. In addition, ataxia with vitamin E deficiency causes movement disorders. Therefore, a common hereditary disease in the Philippines, X-linked dystonia-parkinsonism, could be another differential diagnosis. The Philippines is an archipelago comprising 7,107 islands, and the prevalence of rare hereditary diseases among the populations of small islands is still unclear. For neurologists, establishing a system of genetic diagnosis and counseling in rural areas remains challenging. These unresolved problems should be addressed in the near future. |
| キーワード |
|
|
主題 |
ataxia with vitamin E deficiency |
| キーワード |
|
|
主題 |
movement disorders |
| キーワード |
|
|
主題 |
genetic medicine |
| キーワード |
|
|
主題 |
alpha-tocopherol transfer protein |
| 書誌情報 |
en : The Journal of Medical Investigation
巻 68,
号 3-4,
p. 400-403,
発行日 2021-08
|
| 収録物ID |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
13496867 |
| 収録物ID |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
13431420 |
| 収録物ID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA11166929 |
| 出版者 |
|
|
出版者 |
Tokushima University Faculty of Medicine |
| EID |
|
|
識別子 |
388976 |
| 言語 |
|
|
言語 |
eng |
jmi_68_3-4_400.pdf (379 KB)
