The authors evaluated the axonal protein neurofilament light in plasma (p-NfL) as a possible biomarker for disease severity in FRDA. All possible genetically confirmed FRDA cases in the Västra Götaland Region (VGR) of Sweden were searched and each patient was investigated clinically. Blood samples were obtained for analysis of p-NfL. Eight patients were found, corresponding to 1/170.000 adults in the VGR, and 5 of these participated in the study. Three out of the five FRDA patients displayed a small or moderate increase in the p-NfL value, compared to the age-adjusted cut-offs for p-NfL established in the Clinical Neurochemistry Laboratory at the authors’ hospital. The two others were the oldest and most severely affected, displayed normal values according the cut-off values. The cohort is too small to make any statistically significant correlation between the five p-NfL values with regard to disease severity. FRDA is less prevalent in this region of Sweden than could be assumed. In concordance with previous studies from other authors, it was found that p-NfL may be increased in patients with FRDA, but less so in older more clinically affected patients. Thus, the authors conclude that on an individual basis, p-NFL is of uncertain clinical value as a suitable biomarker.

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