PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0270612|leukoencephalopathy |
| Sentences | 4 |
| PubMedID- 24639874 | [40] described mutations in mars2 encoding the mitochondrial methionyl-trna synthetase (mt-metrs), which cause autosomal recessive spastic ataxia with leukoencephalopathy (arsal or spastic ataxia 3, omim#611390) in humans and neurodegeneration in flies. |
| PubMedID- 23677612 | In support of this conclusion it should be noted that, during the preparation of this manuscript, a fly model for ataxia with leukoencephalopathy caused by rearrangements on methionyl-trna synthetase 2 gene was published (21). |
| PubMedID- 22448145 | We further show that rearrangements in its human homologue, mars2 (methionyl aminoacyl-trna synthetase 2, np_612404.1), are responsible for a human neurodegenerative disease named arsal, for autosomal recessive spastic ataxia with leukoencephalopathy, or spastic ataxia type 3 (spax3, omim #611390) [28]. |
| PubMedID- 26387861 | Mutations of the human homologue of this gene cause a neurodegenerative disease called autosomal recessive spastic ataxia with leukoencephalopathy (arsal). |
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