Neurofilament light chain in serum is significantly increased in chorea-acanthocytosis.

INTRODUCTION: Chorea-acanthocytosis (ChAc) is a rare hereditary neurodegenerative disease, characterized by hyper- and hypokinetic movement disorders, peripheral neuropathy and acanthocytosis. Biomarkers are not established; possible candidates include neurofilament reflecting neuroaxonal damage.

METHODS: We studied serum neurofilament light chain (sNfL) of six ChAc patients compared to two healthy control cohorts (A, six age/sex matched and B, historical cohort of 59 healthy adult subjects) and in two patients with the very similar condition of McLeod syndrome (MLS), the second core syndrome of neuroacanthocytosis. sNfL was quantified using single-molecule array analysis.

RESULTS: sNfL concentration was significantly higher in the ChAc cohort (18.73 pg/ml; IQR 15.65-27.70) compared to both healthy control cohorts (A, 7.37 pg/ml; IQR 5.60-9.05; B, 3.10 pg/ml; IQR 2.43-3.98). In MLS patients, a similar sNfL increase was observed.

CONCLUSIONS: sNfL is significantly increased in ChAc and MLS and seems to reflect neuroaxonal damage in the peripheral as well as the central nervous system.