Table 3. Biomarkers found in blood or tissue in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
| Name | Origin | Findings in CADASIL | Biological function | |
|---|---|---|---|---|
| Blood biomarkers | ||||
| Neurofilament light chain23,132,136 | Patients with CADASIL | Elevated in serum Associated with disability Predicted stroke and cognitive decline |
Main element of neuroaxonal cytoskeleton | |
| NECD24,133 | Mouse model of CADASIL and patients with CADASIL | Decreased in blood Correlated with white-matter hyperintensities |
Unknown | |
| HTRA124 | Mouse model of CADASIL | Elevated | Serine protease transforming-growth-factor signaling | |
| Endostatin24 | Mouse model of CADASIL | Elevated | Angiogenesis inhibitor | |
| Biomarkers found in proteomic analysis of brain vessels | ||||
| Serum amyloid P component106,109,110 | Postmortem or biopsied brain vessels of patients with CADASIL | Elevated and colocalized with NOTCH3 | Amyloid formation | |
| TIMP3110 | Postmortem brain vessels of patients with CADASIL | Elevated and colocalized with NOTCH3 | Matrix metalloproteinases inhibitor | |
| Vitronectin106,109,110 | Postmortem or biopsied brain vessels of patients with CADASIL | Elevated and colocalized with NOTCH3 | Cell adhesion | |
| Neurofilament110 | Postmortem brain vessels of patients with CADASIL | Decreased | Main element of neuroaxonal cytoskeleton | |
| Neurofascin110 | Postmortem brain vessels of patients with CADASIL | Decreased | Links the ECM to the intracellular cytoskeleton | |
| Internexin α110 | Postmortem brain vessels of patients with CADASIL | Decreased | Neuronal intermediate filament protein | |
| Solute carrier family 4110 | Postmortem brain vessels of patients with CADASIL | Decreased | Membrane transport | |
| Smooth-muscle myosin heavy chain110 | Postmortem brain vessels of patients with CADASIL | Elevated | Smooth-muscle contraction | |
| Other ECM proteins106,109,110 | Postmortem or biopsied brain vessels of patients with CADASIL | Elevated | ECM components | |
ECM, extracellular matrix; HTRA, high-temperature requirement protein A1; NECD, NOTCH3 extracellular domain; TIMP3, tissue inhibitors of metalloproteinases 3.