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J Neurol. 2009 Apr;256(4):615-9. doi: 10.1007/s00415-009-0131-z. Epub 2009 Mar 18.

CSF neurofilament protein analysis in the differential diagnosis of ALS.

Author information

1
Dept. of Neurology, Radboud University Nijmegen Medical Centre, 830 LKN, 9101, 6500 HB, Nijmegen, The Netherlands.

Abstract

BACKGROUND:

Cerebrospinal fluid (CSF) biomarkers have been studied to differentiate between patients with ALS and neurological controls, but not in comparison to clinically more relevant disorders mimicking ALS.

METHODS:

In this retrospective study, CSF concentrations of various brain-specific proteins were analyzed in patients with ALS (n = 32) and ALS-mimic disorders (n = 26).

RESULTS:

CSF concentrations of neurofilament light (NFL) and heavy chain (NFHp35), but not other brain-specific proteins, were significantly higher in patients with ALS than in patients with an ALS-mimic disorder, however with maximum sensitivity or specificity of 80%. The mean CSF level of NFHp35 was 781 ng/L in the ALS group vs. 338 ng/L in the ALS-mimic disorders group and for NFL the mean CSF levels were 62 ng/L vs. 24 ng/L.

CONCLUSION:

Although CSF concentrations of NFL and NFHp35 are higher in patients with ALS, the diagnostic accuracy for differentiating ALS from ALS-mimic disorders seems insufficient. Our results suggest that, in the clinical work-up of patients suspected of ALS, application of CSF analysis alone is limited but may have potential in combination with other clinical and electrophysiological markers.

PMID:
19296046
DOI:
10.1007/s00415-009-0131-z
[Indexed for MEDLINE]

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