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GENATLAS PHENOTYPE
last update : 17/06/2006
Symbol SNSP
Location 5p15.2
Name sensory neuropathy with spastic paraplegia
Corresponding gene CCT5
Main clinical features
  • progressive sensory neuropathy in association with spastic paraplegia and a mutilating acropathy of the lower limbs , at nerve biopsy, axonopathy with loss of myelinated nerve fibers of all diameters as well as loss of unmyelinated axons
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     A492G, in exon 4
    Remark(s)