[Refsum disease--rare, but world-famous].
Sigvald Bernhard Refsum (1907-91) was an outstanding Norwegian neurologist, highly respected and recognised both nationally and internationally. His main scientific achievement was that he by clinical means singled out a previously unknown disease entity in the multitude of different neurodegenerative features. In his monograph from 1946 he named the disease "heredopathia atactica polyneuritiformis"; however, it was rapidly known as Refsum's disease. Twenty years later, two German scientists, Klenk and Kahlke, detected large amounts of a peculiar branched-chain fatty acid, phytanic acid, in a Refsum patient. This started an amazing revelation of the biochemical background of the disease, and also led to a logical and effective treatment. Although Refsum's disease is extremely rare, it has become well-known due to this elucidation of both the normal metabolism of phytanic acid and the pathophysiology of the disease.
Institutt for klinisk biokjemi Universitetet i Oslo Rikshospitalet 0027 Oslo. oddvar.halldor.stokke@rikshospitalet.no
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D004850:Eponyms; D049673:History, 20th Century; D006801:Humans; D009462:Neurology / Q000266:history*; D009664:Norway; D012035:Refsum Disease / Q000266:history*