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