eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | axonal neuropathy |
| Symptom | C0037772|spastic paraplegia |
| Sentences | 4 |
| PubMedID- 21321493 | Hereditary spastic paraplegia associated with axonal neuropathy: a novel mutation of spg3a in a large family. |
| PubMedID- 23881105 | We studied a female patient presenting familial spastic paraplegia with sensory axonal neuropathy, compatible with ad inheritance (fig. |
| 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- 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). |
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