| Arterial wall thickening | Fibrosis and smooth muscle cell degeneration reduce vessel lumen diameter |
| Lipohyalinosis | Lipid and protein deposition in vessel walls |
| Vessel rarefaction | Loss of capillaries in affected regions |
| Blood-brain barrier dysfunction | Increased permeability contributing to white matter damage |
| Seizures | Occur in 5-10% of patients, often secondary to stroke |
| Intracerebral hemorrhage | Less common but possible, particularly with anticoagulant use |
| Spinal cord involvement | Rare, but can cause progressive myelopathy |
| Peripheral neuropathy | Some patients develop peripheral nerve involvement |
| White matter hyperintensities | Confluent lesions in the periventricular and deep white matter, particularly in the anterior temporal lobes and external capsules |
| Lacunar infarcts | Small cavities representing completed infarcts in deep gray and white matter |
| Cerebral microbleeds | Detected on susceptibility-weighted imaging |
| Generalized brain atrophy | Progressive with disease duration |
| Databases | OMIMOrphanetClinicalTrialsPubMed |