Years of Research

Years of Research of the “Deater Disease” Continue
Submitted By: Ellen Deater Burns, Medical Liaison

Early in my life my father’s (Harvey Deater) illness was known simply as “the Deater Disease.” I then discovered the designation “Hereditary sensory radicular neuropathy.” This gave way to hereditary sensory neuropathy type 1 (HSN-1), and more recently, hereditary sensory and autonomic neuropathy type 1 (HSAN- 1). Even now, there is controversy that the disease might best be labeled “hereditary sensory and motor neuropathy.” As far as we know, Thomas and Henrietta Anthony Deater, my great grandparents, are the founding generation for the disease in the Deater family. People in generation 3 through generation 7 in the Deater family are alive today who have, or are at risk for, the disease.

The Deater family has been engaged in studies over the course of more than 70 years, during which many potential causes of HSAN-1 have been theorized and ruled out. The research by the Day Laboratory involving many Deater family members confirmed the identification of the mutation on Chromosome 9 that is the cause of the disease. The defective gene regulates the production of the sphingolipid serine palmitoyltransferase (SPT). This regulation is faulty in persons with HSAN-1.

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