Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair

The study investigated the scalp hair of a patient with giant axonal degeneration (GAD) using scanning electron microscopy, comparing it to her parents, first-degree relatives, and age-matched controls. The patient's hair exhibited unique features such as trichorrhexis nodosa and fringing of the cut ends, which were not present in the relatives' hair. Although the carbon, sulfur, and nitrogen content in the patient's hair was normal, the sulfur-to-nitrogen ratio was significantly lower compared to her relatives. However, this difference was not observed when compared to a control group of unrelated healthy volunteers.