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September 10, 2025Open Access

Increased serum Neurofilament light chain levels in Parkinson's Disease patients carrying the p.A53T SNCA mutation: Data from the PPMI study

Key Points

Serum neurofilament light chain levels were significantly higher in A53T-PD patients than in healthy controls.
The mean serum NfL in A53T-PD was 9.82 pg/ml, compared to 7.54 pg/ml in healthy controls.
Observational analysis using data from the PPMI study matched A53T-PD with idiopathic Parkinson's Disease and controls.
Findings highlight potential neurodegenerative processes in genetic Parkinson's Disease, requiring further exploration.

Abstract

Introduction: Serum neurofilament light chain (NfL) levels, a marker of axonal damage, are generally elevated in neurodegenerative conditions, but results in idiopathic Parkinson's Disease (iPD) have been inconsistent. The p.A53T mutation in the SNCA gene usually leads to a severe, rapidly progressing genetic form of PD. Objectives: Assessing the possible use of serum NfL as a marker of ongoind neurodegeneration in A53T-PD. Methods: Using a propensity score matching based technique with data from the Parkinson's Progression Markers Initiative, A53T-PD participants were matched, in a 3:1 ratio, to iPD patients and healthy controls by age and disease duration, where applicable. Results: After matching, 18 A53T-PD, 54 iPD, and 54 controls were analyzed. Serum NfL was significantly higher in A53T-PD (9.82 8.02-18.1 pg/ml) compared to HC (7.54 5.76-10.1) or iPD (8.59 6.86-11.1) overall p=0.049. Conclusion: The increase in serum NfL points to a more aggressive neurodegenerative process in A53T-PD compared to iPD. This finding may help design and implement Disease-modifying treatments (DMTs) in this select group of prototypical genetic PD.

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