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Published online by Cambridge University Press: 01 August 2014
The difference between the two clinical pictures, heredopathia atactica polyneuritiformis and “Refum's syndrome” is stressed, together with their individual variability. A review of the literature clearly shows that in none of the cases of “Refsum's syndrome” described so far have any biochemical errors been identified.
The cases with a symptomatology similar to heredopathia atactica polyneuritiformis represent a challenge to further intensive studies.