Neurofibromatosis Type 1 in Past Populations: Detection and Impact of the Disorder

Abstract

Neurofibromatosis type 1 (NF1) is a dominant autosomal disorder with a variety of clinical manifestations, mild to severe, including cutaneous growths and colourings, skeletal changes, and possible mental disabilities. There is evidence, in the form of historical medical records, that NF1 existed in past populations, and yet the condition does not appear to be of interest to paleopathological researchers. This may be due to a lack of interest in the area, but also may be a result of a poor understanding of the possible skeletal manifestations of the disorder. Various recent clinical studies have discussed such possible changes, and these may be useful for the paleopathologist in diagnosing possible cases of NF1 in past populations. Additionally, the cloning of the gene that controls the disorder has allowed for the study of the sequence. This could allow for the use of the polymerase chain reaction (PCR) technique in the study of ancient DNA to give a more definite diagnosis of the disorder in individuals who seem to display the skeletal indicators of NF1. However, an understanding of the macroscopic, skeletal indicators of NF1 is important for the paleopathologist. Additionally, examining the past for evidence of this disorder may reveal some insight into its origins. as well as reveal information about the coping strategies of individuals who may have been functionally compromised and the attitudes of communities about disabilities.