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Cerebrospinal fluid neurofilament light levels in amyotrophic lateral sclerosis: impact of SOD1 genotype
Author(s) -
Zetterberg H.,
Jacobsson J.,
Rosengren L.,
Blennow K.,
Andersen P. M.
Publication year - 2007
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.2007.01972.x
Subject(s) - amyotrophic lateral sclerosis , sod1 , medicine , cerebrospinal fluid , pathology , neurofilament , genotype , disease , gastroenterology , gene , genetics , biology , immunohistochemistry
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.