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  • Title: Heredopathia atactica polyneurotiformis: therapeutic and pathogenetic aspects.
    Author: Refsum S.
    Journal: Riv Patol Nerv Ment; 1976 Jun; 97(3):115-26. PubMed ID: 74082.
    Abstract:
    None of the single manifestations is in itself specific or pathognomonic for this disease except for the disturbance of the metabolism of phytanic acid. Therefore, clinical syndromes that involve similar manifestations without accumulations of phytanic acid should not be included under the term heredopathia atactica polyneuritiformis, or Refsum's disease. Whatever the biochemical mechanism that links phytanic acid accumulation with the clinical manifestations of heredopathia atactica polyneuritiformis, it appears that the observations made on patients following successful dietary treatment leave little doubt that most if not all of the manifestations in this disease are caused in some way by the accumulation of phytanic acid.
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