Neurofilament Light Chain in Spinal Fluid and Plasma in Multiple System Atrophy - A Prospective, Longitudinal...

Area of Science:

• Neuroscience
• Biomarker Discovery
• Neurology

Background:

• Multiple system atrophy (MSA) requires reliable diagnostic and progression biomarkers.
• Neurofilament light chain (NfL) is a potential biomarker candidate.

Approach:

• This study evaluated NfL in cerebrospinal fluid (NfL-c) and plasma (NfL-p) for diagnosing MSA and tracking disease progression.
• NfL levels were measured in early MSA patients, Parkinson's disease patients, and controls using a high-sensitivity immunoassay.
• Serial annual evaluations assessed the relationship between NfL levels and clinical disease progression.

Key Points:

• NfL-c measurements were highly reproducible.
• NfL-c levels were significantly higher in MSA compared to controls and Parkinson's disease patients, showing excellent diagnostic separation.
• NfL-p showed overlap with Parkinson's disease, indicating less robust diagnostic value.
• Both NfL-c and NfL-p remained stable over time in MSA patients, despite clinical disease progression.
• Neither baseline nor changes in NfL levels correlated with changes in clinical disease severity.

Conclusions:

• NfL-c is a faithful diagnostic biomarker for MSA.
• NfL-p has limited diagnostic utility for MSA compared to NfL-c.
• Elevated NfL levels in MSA are stable and do not predict clinical disease progression.