Introduction Light subunit of neurofilament protein (NFL) is a structural element of neurons. Its levels are increased in cerebrospinal fluid (CSF) in the setting of neurological diseases, including Huntington’s disease (HD), and are considered a marker of neuronal damage. HD is a paradigm of neurodegeneration in the need of appropriate biomarkers.

Objectives To compare the levels of CSF-NFL of HD patients and healthy controls. To correlate CSF-NFL levels with demographic and clinical variables.

Methods The ELISA for NFL was performed according to previously published methods. Twenty-four HD participants (11 women; mean age 47.3 (SD 12.3)) and 37 controls (26 women; mean age 34.1 (SD 9.4)) were included. We compared levels of NFL-CSF levels with a regression model adjusted for age and gender. We examined the relationships (Pearson correlations) between NFL-CSF levels and demographic (age, gender) and clinical (CAG repeat number, disease burden, UHDRS motor, behavioural, functional total scores and NPI scale) variables.

Results CSF levels were significantly higher in all HD subjects [5014.4 (1557.3) ng/l] as compared to controls [335.4 (193.3) ng/l] (p < 0.00) and were correlated with age (correlation coefficient -0.37, p < 0.01) and CAG triplet number (0,51, p < 0.05) in the subset of HD patients. We did not find any correlation with the remaining variables.

Conclusions These results indicate that NFL-CSF levels is a marker of neuronal damage in HD and warrant future efforts towards establishing its sensitivity to track disease progression and reactivity to therapeutical interventions.