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PedAM

Pediatric Disease Annotations & Medicines




Disease axonal neuropathy
Phenotype C0030486|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- 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- 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.

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