eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Comorbidity | C0270612|leukoencephalopathy |
| Sentences | 2 |
| 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- 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. |
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