PedAM
Pediatric Disease Annotations & Medicines
| Disease | paraplegia |
| Phenotype | C0442874|neuropathy |
| Sentences | 6 |
| PubMedID- 23881105 | We studied a female patient presenting familial spastic paraplegia with sensory axonal neuropathy, compatible with ad inheritance (fig. |
| PubMedID- 23659685 | The phenotypic variability ranged from strictly neuropathic weakness to a spastic paraplegia with hereditary motor neuropathy presenting clinical phenotype similar to silver syndrome [21]. |
| PubMedID- 19735987 | We report a new heterozygous s398f mutation in exon 12 of the spg3a gene causing a very early-onset spastic paraplegia in association with motor axonal neuropathy in a 4-year-old girl resembling diplegic cerebral palsy. |
| PubMedID- 20442790 | Genetic studies have identified several discrete cct subunit genes as the loci for mutations resulting in neurological defects: a 143 bp deletion in cct-gamma causes the no tectal neuron phenotype in zebrafish [22]; a missense mutation in cct-delta causes the mutilated foot phenotype in rats [23]; a missense mutation in cct-epsilon is responsible for mutilating sensory neuropathy with spastic paraplegia in humans [24]. |
| PubMedID- 25008398 | Objective: to establish the phenotypic spectrum of kif5a mutations and to investigate whether kif5a mutations cause axonal neuropathy associated with hereditary spastic paraplegia (hsp) or typical charcot-marie-tooth disease type 2 (cmt2). |
| PubMedID- 21915357 | These included peripheral neuropathy due to diabetes mellitus, paraplegia, spina bifida, and spinal block during caesarean section. |
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