DANIEL STEINBERG, M.D., PH.D.; FREDERIC Q. VROOM, M.D.; W. KING ENGEL, M.D.; JAN CAMMERMEYER, M.D.; CHARLES E. MIZE, M.D., PH.D.; JOEL AVIGAN, PH.D.
Dr. Daniel Steinberg: About the time of World War II, a young Norwegian neurologist, Sigvald Refsum, became intrigued with four patients referred to the Neurology Department of the Rikshospitalet in Oslo. Two were a brother and a sister from one family, and the other two were cousins from a second family. The clinical features were unusual and shared a common pattern in all four subjects. Unable to fit the pattern into any previously described category, he reported his findings in 1945 (1), suggesting that these patients presented a new syndrome to which he eventually gave the name "heredopathia atactica polyneuritiformis"
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STEINBERG D, VROOM FQ, ENGEL WK, CAMMERMEYER J, MIZE CE, AVIGAN J. Refsum's Disease—A Recently Characterized Lipidosis Involving the Nervous System: Combined Clinical Staff Conference at the National Institutes of Health. Ann Intern Med. 1967;66:365–395. doi: 10.7326/0003-4819-66-2-365
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Published: Ann Intern Med. 1967;66(2):365-395.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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