SMA THERAPIES II AND BIOMARKERS

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Neurofilaments (NF) are structural components of the neuronal cytoskeleton. We examined associations between plasma levels of the phosphorylated heavy isoform of NF (pNF-H) and age, spinal muscular atrophy (SMA) symptomatic status, and survival motor neuron 2 (SMN2) gene copy number in children across the SMA disease spectrum. Blood plasma pNF-H levels were evaluated cross-sectionally in four groups: (1) non-SMA volunteers (age 4-18 years; n=5) (2) infants with presymptomatic SMA (age: 3-42 days; n=25; most likely to develop SMA type I or II), (3) symptomatic infants with infantile-onset SMA (age: 1-9 months; n=121; most likely to develop SMA type I) and (4) symptomatic children with later-onset SMA (age: 2-9 years; n=126; most likely to develop SMA type II or III).

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