PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0030486|paraplegia |
| Sentences | 4 |
| PubMedID- 24616768 | This initially causes paraesthesia, followed by ataxia and eventually leads to spasticity and paraplegia (4). |
| PubMedID- 24521565 | Conclusions: we diagnosed these patients as having adult chs presenting spastic paraplegia with cerebellar ataxia and neuropathy. |
| PubMedID- 25519961 | We also identified the mutation of the lyst gene, that is causative gene for chediak-higashi syndrome, for the autosomal recessive complicated spastic paraplegia with cerebellar ataxia and neuropathy. |
| PubMedID- 24367272 | Zfyve26 knockout mice do not show developmental defects but develop late-onset spastic paraplegia with cerebellar ataxia confirming that spg15 is caused by zfyve26 deficiency. |
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