NfL and pNfH are increased in Friedreich's ataxia.

ABSTRACT:

Objective

To assess neurofilaments as neurodegenerative biomarkers in serum of patients with Friedreich's ataxia.

Methods

Single molecule array measurements of neurofilament light (NfL) and heavy chain (pNfH) in 99 patients with genetically confirmed Friedreich's ataxia. Correlation of NfL/pNfH serum levels with disease severity, disease duration, age, age at onset, and GAA repeat length.

Results

Median serum levels of NfL were 21.2 pg/ml (range 3.6-49.3) in controls and 26.1 pg/ml (0-78.1) in Friedreich's ataxia (p?=?0.002). pNfH levels were 23.5 pg/ml (13.3-43.3) in controls and 92 pg/ml (3.1-303) in Friedreich's ataxia (p?=?0.0004). NfL levels were significantly increased in younger patients (age 16-31 years, p?ConclusionSerum levels of NfL and pNfH are elevated in Friedreich's ataxia, but differences to healthy controls decrease with increasing age. Long-term longitudinal data are required to explore whether this reflects a selection bias from early death of more severely affected individuals or a slowing down of the neurodegenerative process with age. In a pilot study over 2 years of follow-up-a period relevant for biomarkers indicating treatment effects-we found NfL levels to be stable.

SUBMITTER: Hayer SN 

PROVIDER: S-EPMC7184046 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature