eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia |
| Comorbidity | C0029124|optic atrophy |
| Sentences | 7 |
| PubMedID- 20970105 | Our molecular investigation of an autosomal-recessive spastic ataxia with optic atrophy, present among the old order amish, identified a mutation of mtpap associated with the disease phenotype. |
| PubMedID- 22797356 | Opa3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia. |
| PubMedID- 25758904 | In complex forms, the associated signs may be subtle but important indicators of the mutated gene, such as cerebellar atrophy or cerebellar ataxia with optic atrophy in spg7, developmental delay and short stature in spg20 (troyer syndrome), dysarthria, distal amyotrophy, premature aging and cognitive decline in spg21 (mast syndrome), peripheral neuropathy and abnormal skin and hair pigmentation in spg23 (lison syndrome) (table 2). |
| PubMedID- 21892625 | Two families presented ataxia associated with autosomal, dominant, optic atrophy with an opa1 mutation. |
| PubMedID- 25008111 | The p.n478d missense mutation in human mitochondrial poly(a) polymerase (mtpap) has previously been implicated in a form of spastic ataxia with optic atrophy. |
| PubMedID- 20405026 | Interestingly, mutations in opa1, although originally described in nonsyndromic hereditary optic neuropathy, have recently been reported to also cause a syndromic form of optic atrophy associated with sensorineural deafness, ataxia, and multiple mitochondrial dna deletions [17,18]. |
| PubMedID- 20531441 | Camos (cerebellar ataxia with mental retardation, optic atrophy and skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. |
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