3 
Refsum, Sigvald (1907 - ?)

Refsum's disease

  • autosomal recessive defect in fatty acid metabolism
  • increased phytanic acid
  • peripheral neuropathy
  • cerebellar ataxia
  • deafness
  • retinitis pigmentosa

 
Curriculum Vitae
Nationality:
Norwegian neurologist
Born in Telemark, Norway


Undergraduate:

Medicine in the University of Oslo
Qualified in 1932
Postgraduate:
Doctorate in 1946 with thesis entitled " Heredopathia atactica polyneuritiformis"
Senior physician in Rikshopitalet, Osle (1936 - 1946)
Professor neurologist, University of Bergen (1952 - 1978)
Retired in 1978
Publication:
Refsum S (1945) Heredopathia atactica polyneuritiformis - et tidligere ikke beskrevet familiaert syndrom? Nord Med 28: 2682
Refsum S (1946) Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto described. Acta Psychiatr Neurol 38:1
 
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