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. Author manuscript; available in PMC: 2016 Dec 26.
Published in final edited form as: Nat Rev Neurol. 2014 Dec 23;11(2):72–74. doi: 10.1038/nrneurol.2014.250

Table 1.

Diagnostic and prognostic biomarkers for ALS emerging in 2014

Biomarker Diagnostic value Prognostic value Problems/limitations
ALS-related
genes		 Yes Usually no, with
some exceptions
(e.g. SOD1
Ala4Val)		 Oligogenicity; the pathogenicity of
some mutations is uncertain; scarce
phenotype–genotype correlation
Neurofilaments
in blood		 Yes, but ability to
distinguish ALS
from ALS mimics
not tested		 Yes, but limited
data		 Not yet known
Phosphorylated
tau in CSF		 Yes, but ability to
distinguish ALS
from ALS mimics
not tested		 Yes, but limited
data		 Serial measurements of CSF are
unlikely to be obtainable
Multimodal
MRI		 Yes, but ability to
distinguish ALS
from ALS mimics
not tested		 Not tested Serial MRI scans are unlikely to be
obtainable
18F-FDG–PET Yes, to be
confirmed in larger
multicentre studies		 Not tested Not yet known

Abbreviations: ALS, amyotrophic lateral sclerosis; CSF, cerebrospinal fluid; SOD1, superoxide dismutase 1.