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ID 116574
タイトル別表記
Ataxia with vitamin E deficiency
著者
Tabuena, Ma. Daisy Med Lab and Allied Services Corp.
牟礼, 英生 Tokushima University|Kurashiki Heisei Hospital KAKEN研究者をさがす
Matsuda, Taku Tokushima University
Tabuena, Rollin P. Med Lab and Allied Services Corp.
キーワード
ataxia with vitamin E deficiency
movement disorders
genetic medicine
alpha-tocopherol transfer protein
資料タイプ
学術雑誌論文
抄録
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.
掲載誌名
The Journal of Medical Investigation
ISSN
13496867
13431420
cat書誌ID
AA11166929
出版者
Tokushima University Faculty of Medicine
68
3-4
開始ページ
400
終了ページ
403
並び順
400
発行日
2021-08
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
出版社版
部局
医学系
病院