Ultrastructural Hair Alterations in Friedreich's Ataxia: A Scanning Electron Microscopic Investigation

This study investigated ultra-structural hair alterations in Friedreich's ataxia (FRDA) patients and carriers using scanning electron microscopy. Hair samples from 4 patients at different disease stages and 2 carriers revealed thin and weak hair follicles with cuticular surface irregularities, local damages, and fractures. These alterations were more pronounced in patients, with additional findings of cuticle surface erosions and deep cavities beneath the cuticular level, particularly in advanced disease stages. The study suggested that these hair structure changes might result from oxidative stress due to deficient frataxin expression in mitochondria.