Background: To date there are no biomarkers with proven reliability as a measure of disease burden in amyotrophic lateral sclerosis (ALS). The aim of our study is to assess the neurofilament light chain (NFL) in cerebrospinal fluid (CSF) samples as a measure of disease activity and progression in ALS. Methods: Thirty-seven consecutive patients with ALS, 25 with chronic inflammatory demyelinating polyneuropathy and 21 with other neurodegenerative diseases were evaluated. CSF NFL levels were assayed by two-site solid-phase sandwich ELISA. In patients with ALS, neurological status was assessed by the revised ALS Functional Rating Scale (ALSFRS-r) and the Medical Research Council scale, and the progression of the disease was evaluated using the 'diagnostic delay' and the 'progression rate'. Results: Cerebrospinal fluid NFL levels were higher in ALS cases than in controls (P < 0.0001). Using receiver operating curve analysis, an optimal NFL cut-off of 1981 ng/l discriminated between patients with ALS and neurological controls, with a sensitivity of 78.4% and specificity of 72.5%. Multivariate logistic regression confirmed the association between CSF NFL levels and the presence of ALS (age and sex adjusted odds ratio for ALS 8.9; 95% CI 3.1-25.8; P < 0.0001). In ALS, CSF NFL negatively correlated with the diagnostic delay (P < 0.0001) and the ALSFRS-r (P = 0.014) and positively with the progression rate (P < 0.0001). Conclusions: High CSF NFL levels were found in patients with ALS, reflecting the burden of neurodegeneration. The significant relation between CSF NFL levels and disease progression suggests that NFL may be a useful marker of disease activity and progression in ALS. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS.

Tortelli, R., Ruggieri, M., Cortese, R., D'Errico, E., Capozzo, R., Leo, A., et al. (2012). Elevated cerebrospinal fluid neurofilament light levels in patients with amyotrophic lateral sclerosis: A possible marker of disease severity and progression. EUROPEAN JOURNAL OF NEUROLOGY, 19(12), 1561-1567 [10.1111/j.1468-1331.2012.03777.x].

Elevated cerebrospinal fluid neurofilament light levels in patients with amyotrophic lateral sclerosis: A possible marker of disease severity and progression

Cortese R;
2012-01-01

Abstract

Background: To date there are no biomarkers with proven reliability as a measure of disease burden in amyotrophic lateral sclerosis (ALS). The aim of our study is to assess the neurofilament light chain (NFL) in cerebrospinal fluid (CSF) samples as a measure of disease activity and progression in ALS. Methods: Thirty-seven consecutive patients with ALS, 25 with chronic inflammatory demyelinating polyneuropathy and 21 with other neurodegenerative diseases were evaluated. CSF NFL levels were assayed by two-site solid-phase sandwich ELISA. In patients with ALS, neurological status was assessed by the revised ALS Functional Rating Scale (ALSFRS-r) and the Medical Research Council scale, and the progression of the disease was evaluated using the 'diagnostic delay' and the 'progression rate'. Results: Cerebrospinal fluid NFL levels were higher in ALS cases than in controls (P < 0.0001). Using receiver operating curve analysis, an optimal NFL cut-off of 1981 ng/l discriminated between patients with ALS and neurological controls, with a sensitivity of 78.4% and specificity of 72.5%. Multivariate logistic regression confirmed the association between CSF NFL levels and the presence of ALS (age and sex adjusted odds ratio for ALS 8.9; 95% CI 3.1-25.8; P < 0.0001). In ALS, CSF NFL negatively correlated with the diagnostic delay (P < 0.0001) and the ALSFRS-r (P = 0.014) and positively with the progression rate (P < 0.0001). Conclusions: High CSF NFL levels were found in patients with ALS, reflecting the burden of neurodegeneration. The significant relation between CSF NFL levels and disease progression suggests that NFL may be a useful marker of disease activity and progression in ALS. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS.
2012
Tortelli, R., Ruggieri, M., Cortese, R., D'Errico, E., Capozzo, R., Leo, A., et al. (2012). Elevated cerebrospinal fluid neurofilament light levels in patients with amyotrophic lateral sclerosis: A possible marker of disease severity and progression. EUROPEAN JOURNAL OF NEUROLOGY, 19(12), 1561-1567 [10.1111/j.1468-1331.2012.03777.x].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1223948
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