PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0042875|vitamin e deficiency |
| Sentences | 22 |
| PubMedID- 21827896 | ataxia with vitamin e deficiency and abetalipoproteinemia. |
| PubMedID- 26068213 | The five most common arca in this cohort were friedreich ataxia, ataxia with isolated vitamin e deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of charlevoix-saguenay and ataxia with oculomotor apraxia type 1. |
| PubMedID- 25066259 | ataxia with isolated vitamin e deficiency (aved) is a neurodegenerative disease caused by a mutation in the alpha-tocopherol transfer protein gene (ttpa). |
| PubMedID- 22281871 | A congenital disease, ataxia with vitamin e deficiency, which is characterized by impaired enrichment of alpha-tocopherol (alphat) in plasma due to mutations in the alpha-tocopherol transfer protein gene, has been discovered. |
| PubMedID- 20842586 | With very few exceptions (eg, ataxia associated with vitamin e deficiency), there are no disease-modifying therapies. |
| PubMedID- 26191529 | Such residues are of critical importance as several point mutations at their position lead to severe forms of ataxia with vitamin e deficiency (aved) phenotypes. |
| PubMedID- 22908982 | In other cases, founder mutations are dispersed around the mediterranean basin as illustrated by the c.744dela mutation in the ttpa gene of ataxia with isolated vitamin e deficiency [49] and the splice site defects in megaloblastic anemia 1 [50] and triple-a syndrome [51]. |
| 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. |
| PubMedID- 24303293 | We initially used contactwalker to investigate ataxia with vitamin e deficiency (aved), a neurodegenerative disease caused by mutations to the α-tocopherol transfer protein1; by analyzing differences in interatomic contacts, we characterized the mutation-associated structural differences, rationalized those findings with experiment, and offered a molecular-level explanation for the effects of the disease. |
| PubMedID- 20464573 | ataxia with vitamin e deficiency (aved) is a rare autosomal recessive neurodegenerative disease, due to mutations in ttpa gene (arita et al. |
| PubMedID- 20301419 | ataxia with vitamin e deficiency |
| PubMedID- 23538602 | Four autosomal recessive types have dietary or biochemical treatment modalities (ataxia with vitamin e deficiency, cerebrotendinous xanthomatosis, refsum, and coenzyme q10 deficiency), whereas there are no specific treatments for other ataxias. |
| PubMedID- 22822447 | The necessity of vitamin e for human health is revealed in the detrimental phenotypes that occur in human diseases where vitamin e absorption or retention is severely limited, such as abetalipoproteinemia or ataxia with isolated vitamin e deficiency [11,12,13,14]. |
| PubMedID- 20808545 | ataxia with vitamin e deficiency (aved), presents as a frda-like syndrome [6, 20]. |
| PubMedID- 24369383 | ataxia with vitamin e deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the alpha-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin e. |
| PubMedID- 21729881 | The association between the autosomal recessive neurodegenerative disease, aved (ataxia with isolated vitamin e deficiency) and mutations in the gene, ttpa, on chromosome 8q13 encoding the alpha-tocopherol transfer protein (14), has been established. |
| PubMedID- 25614784 | ataxia with vitamin e deficiency is an autosomal recessive neurodegenerative disorder. |
| 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- 23186252 | Background: equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (nad/edm) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin e deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer protein gene (ttpa). |
| PubMedID- 23420606 | Hereditary forms may be autosomal dominant (for instance hd, sca3, fahr disease, drpla, etc), autosomal-recessive [for instance gangliosidosis, ataxia telangiectasia, ataxia with vitamin e deficiency (aved)], x-linked (for instance lubag/dyt3), or mitochondrial (for instance leigh, merff/melas; fahn et al., 1998). |
| PubMedID- 24179805 | A moderate cerebellar atrophy similar to that encountered in frda was found in ataxia with vitamin e deficiency (aved) (anheim et al., 2010). |
| PubMedID- 23077608 | The hepatic alpha-tocopherol transfer protein (ttp) is required for optimal alpha-tocopherol bioavailability in humans; mutations in the human ttpa gene result in the heritable disorder ataxia with vitamin e deficiency (aved, omim #277460). |
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