Table 4.
Summary of pathological findings in HTRA1-related cerebral small vessel disease cases.
| Symptomatic carriers | Symptomatic carriers | CARASIL | CARASIL | CARASIL | CARASIL | |
|---|---|---|---|---|---|---|
| Amino acids | p.G283E | p.R302Q | p.A173T | p.A252T | p.R302X | p.R302X |
| Sex | Male | Male | Female | Female | Male | Female |
| Age at pathological analysis | 56 | 61 | 35 | 51 | 54 | 46 |
| Affected intracranial arteries | ||||||
| Large artery | NA | NA | NA | NA | + | + |
| Meningeal to leptomeningeal artery | NA | + | NA | + | + | + |
| Arterioles | + | + | + | + | + | + |
| Minimum diameter of arterioles (μm) | ~40 | <100 | NA | NA | 45 | NA |
| Capillaries | NA | NA | NA | NA | NA | NA |
| Pathological findings of affected intracranial arteries | ||||||
| Myointimal thickening | + | + | + | + | + | + |
| Multilayered elastic laminae | + | + | + | + | + | + |
| Hyalinosis | + | + | NA | + | + | NA |
| Loss of medial smooth muscle cell (SMC) | NA | + | + | + | + | + |
| Narrowing of vascular lumens | NA | + | NA | + | NA | + |
| Positive findings with immunohistochemistry | ||||||
| Transforming growth factor | NA | + | NA | NA | NA | + |
| Phosphorylated Smad2 | NA | NA | NA | NA | NA | + |
| Latency-associated peptide | NA | NA | NA | NA | NA | + |
| Extradomain A fibronectin | NA | NA | NA | NA | NA | + |
| Fibronectin | NA | NA | NA | + | NA | NA |
| Versican | NA | NA | NA | NA | NA | + |
| Hyaluronan | NA | NA | NA | NA | NA | + |
| Collagen type I | NA | NA | NA | Weak | NA | NA |
| Collagen type III | NA | NA | NA | Weak | NA | NA |
| Collagen type IV | NA | NA | NA | Weak | NA | NA |
| Electron microscopy | NA | + | NA | + | NA | NA |
| Findings | Dense deposit | Lysosome-like body | ||||
| Lipofuscin-like body | ||||||
| References | (7) | (43) | (15) | (31, 44, 45) | (44) | (1, 44, 46) |
Symptomatic carriers, heterozygous HTRA1-related CSVD; CARASIL, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; NA, not available.