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PedAM

Pediatric Disease Annotations & Medicines




Disease paraplegia
Phenotype C0004134|ataxia
Sentences 4
PubMedID- 24521565 Conclusions: we diagnosed these patients as having adult chs presenting 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.
PubMedID- 24616768 This initially causes paraesthesia, followed by ataxia and eventually leads to spasticity and paraplegia (4).
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.

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