Looking for a sensitive biomarker for genetically determined neurodegenerative diseases through the window of the eye

Summary Biomarkers are valuable tools offering quantifiable objective measures for biological processes. In neurodegenerative diseases mitochondria are frequently either primarily or secondarily involved, but the difficulty in directly assessing the target tissue and the frequently slow progression makes the search for reliable, convenient, sensible, specific and objective biomarkers a particularly relevant issue. The visual system is the primary target where mitochondria dysfunction frequently manifests itself. The definition of a typical, objective, quantifiable pattern of neuro‐ophtamological alteration that shows correlation with clinical measures and is sensible to progression may be very important. We had previously identified by advanced neuroimaging and OCT specific changes discriminating patients from controls in f hereditary spastic paraplegia (HSP) and Friedreich's ataxia (FRDA) patients. We now tested these approaches for their ability to provide timely information on disease progression by evaluating longitudinally 21 HSP and 12 FRDA patients.