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Cerebrospinal fluid neurofilament light levels in amyotrophic lateral sclerosis: impact of SOD1 genotype.
Umeå University, Faculty of Medicine, Pharmacology and Clinical Neuroscience, Neurology.
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2007 (English)In: European journal of neurology : the official journal of the European Federation of Neurological Societies, ISSN 1468-1331, Vol. 14, no 12, 1329-33 p.Article in journal (Refereed) Published
Abstract [en]

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative syndrome with familial and sporadic forms. Most ALS-associated mutations are found in the superoxide dismutase 1 (SOD1) gene. We conducted a study including 60 sporadic and 19 familial ALS patients, 206 reference patients with other neurological disorders and 40 age- and sex-matched healthy controls to test the hypothesis that cerebrospinal fluid (CSF) levels of neurofilament light (NF-L) protein, a marker of axonal degeneration, might provide diagnostic and prognostic information on the disease. All ALS patients were screened for SOD1 mutations. Ten of the familial and five of the sporadic cases carried SOD1 mutations. NF-L concentration [median (range)] was strongly elevated in ALS [2110 (255-10 800) ng/l] compared with reference patients and healthy controls [277 (<125-15 506) and 175 (<125-710) ng/l, respectively, P < 0.001] and correlated inversely with disease duration (Spearman R = -0.518, P = 0.001). NF-L levels were lower in SOD1 mutation-associated ALS compared with SOD1 wild-type (wt) ALS (P = 0.03). In conclusion, CSF NF-L levels may provide both diagnostic and prognostic information, particularly in SOD1 wt ALS.

Place, publisher, year, edition, pages
2007. Vol. 14, no 12, 1329-33 p.
URN: urn:nbn:se:umu:diva-25732DOI: 10.1111/j.1468-1331.2007.01972.xPubMedID: 17903209OAI: diva2:233415
Available from: 2009-09-01 Created: 2009-09-01 Last updated: 2009-09-01

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