Figure 2.

Plasma levels of neurofilament light and phosphorylated neurofilament heavy chain are elevated in younger SOD1-deficient individuals graphs depict plasma levels of neurofilament light (NF-L) and phosphorylated heavy chain (pNF-H) levels in samples from patients 2, 3, and 4, plus nine heterozygous individuals. Values were plotted against age to visualize potential age-related differences. (A) Younger patients exhibited levels of NF-L above the range observed in healthy, age-matched controls (0–4 years, left grey square), while the older patient 4 had levels within the range observed in controls of the same age range (5–18 years, right grey square). Reference ranges were previously reported by Nitz et al.³¹ P-NfL levels were below the cut-off for adult-onset ALS in all samples.²⁴ (B) pNF-H levels were elevated and above the cut-off used in ALS patients in both younger patients (patients 2 and 3), while the older patient 4 showed levels just below. All heterozygous individuals exhibited non-elevated pNF-H levels.