eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia with isolated vitamin e deficiency |
| Comorbidity | C0004134|ataxia |
| Sentences | 4 |
| PubMedID- 25614784 | ataxia with vitamin e deficiency is an autosomal recessive neurodegenerative disorder. |
| PubMedID- 20808545 | ataxia with vitamin e deficiency (aved), presents as a frda-like syndrome [6, 20]. |
| PubMedID- 24665325 | In addition, ataxia with vitamin e deficiency caused by mutations in the a-ttp gene is expressed as a friedreich-like phenotype (19). |
| PubMedID- 22720116 | Furthermore, mutations in the gene coding for the α-tocopherol transporter protein (α-ttp) result in a neurologic syndrome of spinocerebellar ataxia called ataxia with vitamin e deficiency or aved. |
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