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ID 116574
Title Alternative
Ataxia with vitamin E deficiency
Author
Tabuena, Ma. Daisy Med Lab and Allied Services Corp.
Mure, Hideo Tokushima University|Kurashiki Heisei Hospital KAKEN Search Researchers
Matsuda, Taku Tokushima University
Tabuena, Rollin P. Med Lab and Allied Services Corp.
Keywords
ataxia with vitamin E deficiency
movement disorders
genetic medicine
alpha-tocopherol transfer protein
Content Type
Journal Article
Description
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.
Journal Title
The Journal of Medical Investigation
ISSN
13496867
13431420
NCID
AA11166929
Publisher
Tokushima University Faculty of Medicine
Volume
68
Issue
3-4
Start Page
400
End Page
403
Sort Key
400
Published Date
2021-08
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Medical Sciences
University Hospital