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April 26, 1947

Heredopathia atactica polyneuritiformis: A Familial Syndrome not Hitherto Described. A Contribution to the Clinical Study of the Hereditary Diseases of the Nervous System

JAMA. 1947;133(17):1319. doi:10.1001/jama.1947.02880170065026

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Abstract

During 1937-1943 an unusual syndrome was presented by 4 Norwegian patients who belonged to two different families and were treated in the neurological department of the Riks-hospital. They presented an unusual syndrome and had previously been referred to at a neurologic demonstration at the Rikshospital in Oslo on June 7, 1944 at a staff meeting and at the ninth Congress of Scandinavian Neurologists on Sept. 23, 1945 at Stockholm. A short preliminary communication was published in Nordisk Medisen. The clinical picture has been mentioned by Professor Monrad Krohn in the Text Book of Internal Medicine, volume v, under the term "heredopathia atactica polyneuritiforms (Refsum)." As far as the author can ascertain, the familial syndrome has previously not been described.

The syndrome consists of hemeralopia, which occurred in all 5 patients, and atypical retinitis pigmentosa, which occurred in all 3 members of family B. In the 2 patients of family A

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