Photo Credit: Nathan Devery

Elevated neurofilament light (NfL) levels emerged as a robust diagnostic marker for neuronal intranuclear inclusion disease (NIID), exhibiting strong correlations with disease severity and progression, suggesting NfL as a potential indicator for monitoring NIID over time.

The following is a summary of “Plasma neurofilament light as a promising biomarker in neuronal intranuclear inclusion disease,” published in the January 2024 issue of Neurology by Liu et al.

Neuronal intranuclear inclusion disease (NIID), a rare brain puzzle, begs for biomarkers to break the case. Researchers launched a retrospective investigation to decipher how plasma protein levels reflect disease severity and progression in NIID.

They involved 30 patients with NIID and 36 controls matched for age and sex. The participants were followed for 1–2 years. Plasma levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), and tau were measured using ultrasensitive single molecule array (Simoa) assays, which included disease severity through the use of the Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA), Activities of Daily Living (ADL), and counts of central nervous system (CNS) symptoms, in addition to analyzing neuroimaging data.

The results showed patients with NIID exhibited elevated plasma NfL levels (median, 35.2 vs. 8.61 pg/mL, P<0.001) and GFAP levels (102 vs. 79.0 pg/mL, P=0.010) compared to controls. Notably, NfL emerged as a robust diagnostic marker with an area under the curve (AUC) of 0.956. In acute-onset NIID, NfL levels were notably higher (77.5 vs. 28.8 pg/mL, P=0.001). Strong correlations were observed between NfL and disease severity, including MMSE (ρ = −0.687, P<0.001), MoCA (ρ = −0.670, P<0.001), ADL (ρ = 0.587, P= 0.001), CNS symptoms (ρ = 0.369, P=0.045), and white matter hyperintensity volume (ρ = 0.620, P=0.004). Elevated baseline NfL (≥35.2 pg/mL) was associated with increased ADL scores, CNS symptoms, and white matter hyperintensity at follow-up. There are no significant differences in UCH-L1 and total tau levels.

They concluded that NIID and elevated NfL emerged as potential disease severity and progression indicators over time.

Source: link.springer.com/article/10.1007/s00415-023-12160-9