A new disease mimicking Refsum syndrome

Abstract

In this issue of Neurology ®, Fiskerstrand et al.1 describe a novel family with a “Refsum-like disorder.” In one of those satisfying quirks of timing, it was precisely 25 years ago that another article appeared in Neurology by Refsum and colleagues describing the successful dietary treatment of a patient with Refsum disease.2 Sigvald Refsum (1907–1991), Norway’s best known neurologist, described the disease that bears his name in 1945/1946 and called it “heredopathia atactica polyneuritiformis.”3 He went on to be Chair of the Neurology Department at Oslo from 1954 to 1978. The disease associated with …